Pathology of the hearing organs in children. Hereditary hearing pathologies Hereditary deafness causes

Hereditary hearing loss is a form of congenital hearing loss that is the result of genetic mutations and is inherited from parents to children. The disease can manifest symptoms from the first months of a child’s life. Often accompanied by secondary speech disorders.

Classification

Hereditary hearing loss, like other diseases, does not have only one manifestation - the disease is multifaceted and therefore needs to be classified.

General classification of hereditary hearing loss

By type the disease is divided into:

. Hereditary hearing loss occurs as a result of dysfunction of the structure of the inner ear.
. The disease occurs due to anomalies of both the ossicles of the middle ear and the outer ear.
Mixed. It is a combination of sensorineural and conductive types of disease.
Central. Hearing impairment in this case is a consequence of dysfunction or damage to the cranial nerve, cerebral cortex or auditory tract of the brain stem.

According to onset time, hereditary hearing loss is divided into:

Pre-speech (prelingual). In this case, hearing impairment appears before speech development.
Post-speech (postlingual). Associated symptoms appear after the child begins to speak.

Hearing loss is measured in decibels (dB). The hearing threshold, or 0 dB, is marked for each frequency relative to the level at which young people with normal hearing perceive a tone that is half as loud as it is currently. Hearing is considered within normal limits if a particular person's hearing threshold is within 0-15 dB of the normal hearing threshold. According to this, degrees Hearing loss is divided into:

light– the hearing threshold is in the range from 26 to 40 dB;
moderate– in the range from 41 to 55 dB;
moderately severe– in the range from 56 to 70 dB;
heavy– in the range from 71 to 90 dB;
deep– 90 and above dB.

The frequency of congenital hearing loss determines at what frequencies (measured in Hertz, Hz) a person experiences hearing loss. In this regard, the frequency of the disease includes:

low frequency– a person has difficulty hearing sounds whose frequency is below 500 Hz;
mid-frequency– in the range from 501 to 2,000 Hz;
high frequency– sound frequency exceeds 2,000 Hz.

The disease is also classified according to combination with other disorders within the framework of one genetic pathology:

Syndromic form. In this case, the disease is one of the components of a general syndrome.
Non-syndromic form. Not part of the syndrome.

And by mechanism of inheritance offspring disease is divided into:

Autosomal dominant. In this case, hereditary hearing loss will manifest itself in a child if at least one of his parents has one “defective” gene, and not contained in the sex (X and Y) chromosomes.
Autosomal recessive. In an autosomal recessive form of the disease, the child inherits hearing loss from both parents who have damaged genes.
X-linked. In this case, hereditary hearing loss is associated with a defect in any of the genes located on the sex X chromosome. It will manifest itself in a child only if the baby does not have another X chromosome with a normal copy of the same gene.

ICD-10

According to the International Classification of Diseases, 10th revision, known by the abbreviation ICD-10, hereditary hearing loss is included in class VIII - “Diseases of the ear and mastoid process,” characterized by codes from H60 to H95.

In this classification of hereditary hearing loss, depending on its type and type, the following codes correspond:

0 – Conductive hearing loss, bilateral;
1 – Conductive hearing loss, unilateral with normal hearing in the opposite ear;
2 – Conductive hearing loss, unspecified;
3 – Sensorineural hearing loss, bilateral;
4 – Sensorineural hearing loss is unilateral with normal hearing in the opposite ear;
5 – Sensorineural hearing loss, unspecified;
6 – Mixed conductive and sensorineural hearing loss, bilateral;
7 – Mixed conductive and sensorineural hearing loss, unilateral, with normal hearing in the opposite ear;
8 – Mixed conductive and sensorineural hearing loss, unspecified.

Causes

Hereditary hearing loss occurs in a child in cases where there have already been cases of hearing impairment in the family. In other words, the main factor causing the disease is heredity. However, there are a number of specific reasons leading to the development of the disease.

Isolated hereditary hearing loss (non-syndromic form) is the most common cause of congenital hearing problems. As a rule, it is caused by a mutation in only one gene (GJB2), which encodes a protein that is involved in the formation of connections between cells in the neurosensory apparatus of the inner ear. However, in other cases, the disease can be caused by a number of factors of syndromic origin.

Autosomal dominant causes

In cases of autosomal dominant type of hereditary hearing loss, one of four syndromes can lead to the disease:

Stickler syndrome. This is a genetic disorder that can cause significant hearing, vision and serious joint problems. The disease is also known as "progressive arthro-ophthalmopathy." Often, this diagnosis is made to infants and young children. Stickler syndrome is recognizable by its characteristic facial structure: a small nose, bulging eyes, receding chin and rough facial features. At birth, these children often have a cleft palate.
Waardenburg syndrome. This is a genetically heterogeneous hereditary disease, which is characterized by a whole complex of defects and developmental anomalies. This course of the disease is caused by a violation of the formation of the neural crest structure in the embryonic period. Waardenburg syndrome is recognizable by the displacement of the lateral angle of both eyes, a wide bridge of the nose (the so-called “Greek profile”), pigment abnormalities of the iris, skin, hair and the most important symptom in the context - hearing loss.
Gill syndrome. This disease can manifest itself in a variety of ways, even within the same family. Patients develop branchial arches (brachio-gills). People suffering from gill syndrome often have cupped and protruding ears. Invariably accompanied by hearing impairment due to the location of the disease.
Neurofibromatosis type 2. A hereditary disease that occurs and manifests itself spontaneously. It is characterized by multiple formation of benign tumors that arise along the peripheral nerves and in the central nervous system. People with this disease are forced to undergo repeated and regular surgeries to remove tumors, which ultimately leads to.

If a child is diagnosed with any of the listed diseases, it is worth not only focusing all efforts on its treatment (relief), but also urgently checking the hearing with a pediatrician or otolaryngologist.

Autosomal recessive causes

In cases of an autosomal recessive type of hereditary hearing loss, the following list of causes can lead to the disease:

Usher syndrome. A hereditary disease transmitted autosomal recessively. It is a fairly rare disease caused by a mutation in one of 10 genes that lead to sensorineural hearing loss and progressive vision loss. Currently, Usher syndrome, unfortunately, is an incurable disease.
Pendred's syndrome. A genetic disease that causes hearing loss in children at an early age. Sometimes the disease also affects the thyroid gland and, in addition, can lead to imbalance.
Jervell and Lange-Nielsen syndrome. It is a type of congenital long QT syndrome - a disorder of the molecular mechanisms of electrical activity in the membrane of myocardial cells. An accompanying symptom of the syndrome is the development of deafness.
Biotinidase deficiency. When the level of this enzyme is reduced in the body, the accumulation of substrates occurs - the initial substances converted by these enzymes. Their excess leads to a toxic effect on the central nervous system and tissues, which can also lead to hearing loss.
Refsum's disease. A genetically determined disorder leading to the oxidation of phytanic acid and its accumulation in body tissues. As a result, neurological disorders, deterioration of vision, smell, ichthyotic skin changes, cardiac disorders and persistent hearing loss develop.

X-linked causes

In cases of X-linked hereditary hearing loss, two syndromes can lead to the disease:

Alport syndrome. A hereditary disease in which kidney function is reduced and blood is present in the urine. The syndrome is often accompanied not only by eye damage, but also by deafness.
Mohr-Tranebjerg syndrome. A genetic disease that causes postlingual hearing loss, visual impairment, dystonia, fractures and mental retardation.

Symptoms

Hereditary hearing loss is easy to distinguish by its very characteristic symptoms:

significant hearing loss with a tendency to worsen;
ringing and ;
and loss of balance.

It is quite difficult to recognize concomitant symptoms in a child, because at such a young age he cannot verbally express that his hearing has become worse. Therefore, there is a list of signs that help determine that the baby’s hearing is fine. If the parent can answer affirmatively to each of the points, then everything is fine.

Signs of good hearing in a child under 3 months of age:

wakes up from sounds;
reacts to loud sounds;
widens eyes or blinks in response to loud noises.

The child's age ranges from 3 to 4 months;

stops playing if he hears new sounds;
calms down at the mother's voice;
looks for the source of unfamiliar sounds if they are in sight.

Child's age in the range from 6 to 9 months:

says the word “mother”;
plays with musical toys.

Child's age in the range from 12 to 15 months:

knows his name;
understands the word “no”;
actively uses a vocabulary of at least three words;
imitates some sounds.

Child's age in the range from 18 to 24 months:

actively uses a dictionary with phrases consisting of at least two words;
the child knows at least twenty words and applies them appropriately to the situation;
knows body parts;
strangers can understand at least half of what the child is saying.

For children under 36 months:

the child’s speech already consists of 4 sentences containing at least 5 words;
vocabulary is about 500 words;
strangers are able to understand 80% of a child’s speech;
The baby understands some verbs.

Possible complications

Auditory and general mental development are closely related. If a child cannot hear, the auditory and speech centers of his brain do not receive information and cannot develop normally. As a result, intelligence and speech suffer. But this does not mean that children with hearing loss are less intelligent than their peers with healthy hearing. Only they need to be given the opportunity to hear sounds.

The likelihood of developing complications and the overall prognosis directly depends on the vigilance and speed of reaction of parents. The sooner they turn to a specialist at the slightest suspicion of hearing problems, the more favorable the prognosis will be and the lower the chance of slow development, speech problems or the development of irreversible deafness.

Diagnostics

Diagnosis of hereditary hearing loss begins in the pediatrician's office. There, the specialist will listen to concerns or complaints, and, most likely, will refer the parents and the child further to a pediatric otolaryngologist.

To confirm or refute a preliminary diagnosis, the doctor may refer the child to undergo a hearing examination, which includes:

1. Game audiometry. The procedure is prescribed to test hearing in children from two to five years old. The essence of the technique is to deliver a known audible sound into the child’s ear. In response to a sound signal, the baby needs to respond with a certain action, for example, throwing a cube into a basket, putting a ring on a pyramid, etc. The little patient gradually begins to understand the meaning of the diagnosis, and the sound intensity is gradually reduced until a threshold response is obtained.

2. Behavioral testing. The meaning of the procedure is that the child must respond to an extraneous sound that will act as an irritant for him. Audiologists and otolaryngologists say that such tests can be performed on children as young as six months. In older children, the test is carried out in a playful way, similar to play audiometry.

3. Pure tone audiometry. A type of audiometry, the peculiarity of which is testing in a free sound field. This technique involves the use of an audiometer - a device that creates sounds of varying strength and height. Sounds are given until problem sectors are detected - tones or frequencies in which the child’s hearing loss is observed. Suitable for older children.

4. Air conduction audiometry. This method of hearing research involves the use of headphones, in contrast to pure tone audiometry.

5. Audiometry of bone conduction. The procedure involves the generation of specific sounds perceived by the young patient through a vibrator located on the mastoid bone or forehead. The technique allows sound to pass through the middle and outer ear, and its purpose is aimed at assessing the condition of the inner ear.

Standard audiometry is used to study the hearing of children aged 5 years and older, in other words, when the child can tell himself whether he hears a signal or not.

6. Simulation tests. Another type of audiometry aimed at assessing the condition of peripheral auditory systems, for example, mobility of the eardrum, pressure in the middle ear, mobility of the middle ear ossicles, function of the eustachian tube, etc.

7. Test response of the auditory brainstem. The procedure is aimed at recording and studying neuroelectric activity that occurs in response to specific sound stimuli: tone, impulse, click, etc. The essence of the technique is to attach electrodes to the child’s head, through which responses to sound are recorded. Most often prescribed to newborns.

8. Evoked otoacoustic emissions. An acoustic probe is placed in the external auditory canal, where a certain sound signal is sent, the response to which is amplified, passes through a microphone and is transmitted to a computer, where all data is analyzed. The results of the study are presented in the form of otoacoustic emission curves and their frequency spectra. At the same time, a large number of samples are accumulated and averaged data is output, which makes it possible to suppress noise and artifacts, the source of which may be the auditory canal or middle ear.

Based on all the information received, the diagnosis of hereditary hearing loss will be either confirmed or refuted. When a child is diagnosed with this disease, he is prescribed treatment on an individual basis.

Treatment

Even with timely treatment, the prognosis for hereditary hearing loss is relatively unfavorable - as a rule, hearing loss will persist throughout life. However, treatment will at least reduce the progression of symptoms, and, for the most part, suppress any development of the disease. In addition to treatment of the disease itself, the child may require correction of speech defects by a speech therapist if prelingual hereditary hearing loss has been diagnosed.

General principles

Therapy for hereditary hearing loss is complex and consists of carrying out therapeutic measures aimed at normalizing the structure of the ear and improving blood circulation in the structures of the auditory analyzer. To achieve these goals, various methods are used, such as:

drug therapy, the purpose of which is to improve blood circulation in the structures of the brain and ear, eliminating the causative factor (for example, with biotinidase deficiency);
physiotherapeutic methods used to improve hearing in general;
auditory exercises prescribed to maintain hearing levels and improve speech skills;
hearing aid – the use of hearing aids to improve the patient’s hearing;
surgical treatment – operations to restore the normal structure of the outer and middle ear, as well as to install a hearing aid or cochlear implant.

Drugs and physical therapy

Drug therapy– this is where the treatment of hereditary hearing loss begins in a child, and sometimes in an adult. An otolaryngologist may be appointed to:

medications that improve cerebral circulation - Stugeron, Vasobral, Cinnarizine, Eufillin, Papaverine, etc.;
drugs that increase blood supply to the inner ear - Plental, Pentoxifylline, etc.;
neuroprotectors that reduce the negative effects of hypoxia on nerve cells, for example, Preductal;
medications that improve metabolism in brain tissue - Solcoseryl, Nootropil, Cerebrolysin, Pantocalcin, etc.

Among physiotherapeutic methods The following are used to treat chronic hearing loss:

hyperbaric oxygen therapy;
endaural phonoelectrophoresis;
stimulation with fluctuating currents;
laser irradiation of blood (helium-neon laser);
quantum hemotherapy.

Surgery

Surgeries are currently being performed to treat conductive and sensorineural hearing loss and deafness.

Surgeries to treat conductive deafness involve restoring the normal structure of the organs of the middle and outer ear, resulting in improved hearing. Depending on which structure is being restored, the operations are named accordingly:

tympanoplasty– restoration of the auditory ossicles of the middle ear (stapes, malleus and incus);
myringoplasty– restoration of the eardrum, etc.

Despite the fact that it is not always possible to restore 100% hearing to a child or adult, surgical intervention always gives positive results.

There are only two operations for the treatment of sensorineural deafness:

Installation of a hearing aid. A relatively simple operation, but it will not help restore hearing to those patients whose sensitive cells in the cochlea of the inner ear are damaged.
Installation of a cochlear implant. The operation to install an implant is technically extremely complex, therefore it is used in a limited number of medical institutions, especially if performed on a child. In this regard, the procedure is quite expensive, as a result of which it is not accessible to everyone.

The essence of cochlear prosthetics is as follows: mini-electrodes are introduced into the structures of the inner ear, which recode sounds into nerve impulses and transmit them to the auditory nerve. These electrodes are connected to a mini-microphone that picks up sounds, which is placed in the temporal bone.

After installing such a system, a microphone records sounds and transmits them to electrodes, which, in turn, recode them into nerve impulses and send them to the auditory nerve, which transmits signals to the brain, where sounds are recognized. That is, cochlear implantation is the formation of a new structure that performs the functions of all ear structures.

Both options for surgical intervention are performed only if conservative therapy is ineffective and with severe hereditary hearing loss, when the patient is not able to perceive normal speech even at close range.

Hearing aids

Today there are two main types of hearing aids:

1. Analog. These are devices familiar to many people that can be used to monitor the ear of an older person. The units are quite easy to use, but at the same time they are bulky, not very convenient and quite crude in providing amplification of the sound signal.

You can purchase an analog hearing aid and start using it yourself, without special adjustments from a specialist. It has several operating modes, which can be switched between using a special lever. Thanks to this switch, anyone, even a child, can independently determine the optimal mode of operation of the device and use it in the future.

However, the analog version of the device also has disadvantages: it often creates interference and noise, since it amplifies different frequencies, and not exclusively those that are difficult for humans to hear, as a result of which the convenience of using an analog hearing aid remains in question.

2. Digital. A digital hearing aid, unlike its predecessor, is adjusted exclusively by a hearing care specialist. As a result, only sounds poorly perceived by humans are amplified, and not any noise.

The precision of the digital hearing aid allows a person to hear quite well without any interference. In addition, the setting allows you to restore sensitivity to the lost spectrum of sounds without affecting all other tones, which is especially important for a child. Therefore, from the point of view of convenience, comfort, individual needs and level of correction, digital devices are better than analog ones. However, to select and configure, you need to visit a hearing center, which is not available to everyone.

Prevention measures

Prevention of hereditary hearing loss in future children is the most important way to solve the problem. The leading role in preventing the hereditary form of this disease is played by medical genetic consultations, during which members of families in which there are persons with hearing pathology can obtain information regarding possible offspring and the degree of risk of having a child with hearing impairment.

Hereditary hearing loss is far from a death sentence for a child. Of course, there are risks and potential dangers caused by this disease. However, with increased attentiveness of parents to the health of their child, timely reaction and a competent specialist, the baby has every chance of a full life.

Next article.

The results of epidemiological studies conducted in Russia in recent years indicate that about 1 million children and adolescents in our country have hearing pathology, and the All-Union Society of the Deaf and Mutes numbers more than 1.5 million people with hearing impairments. Calculations show that for every 1000 physiological births, one deaf child is born. In addition, during the first 2–3 years of life, another 2–3 children lose their hearing. 14% of people aged 45 to 64 years and 30% of people over 65 years have hearing loss. According to experts, by 2020 more than 30% of the entire world population will have hearing impairment.

Good hearing is a prerequisite for the normal psycho-speech development of a child. A hearing-impaired child often lags behind his peers in mental development, it is difficult for him to study at school, and difficulties in communication and choosing a future profession are inevitable. Hearing loss in early childhood, before the child develops speech, leads to muteness and disability.

Hearing impairment in most cases in the form of a decrease in its severity can be caused by various reasons (congenital and acquired), among which heredity, prematurity, jaundice of newborns, cerebral palsy, side effects of certain drugs (thalidomide), primarily antibiotics, are of great importance ( streptomycin, kanamycin, monomycin, especially in the first 3 months of pregnancy) and diuretics, quinine poisoning, alcohol consumption during pregnancy, malformations, infectious (syphilis), including viral (rubella, chickenpox, measles, influenza) diseases, injuries head, noise exposure, age-related changes.

The decrease in hearing acuity in such cases can reach a significant severity, up to deafness. The severity of the disorders and the difficulty (often impossibility) of restoring auditory function are associated mainly with damage to the sound-perceiving (sensory) formations of the inner ear and the auditory nerve (sensorineural hearing loss).

Absolute deafness is rare. There are usually remnants of hearing that allow the perception of very intense sounds, including some speech sounds spoken in a loud voice above the ear. Intelligible speech perception is not achieved with deafness; This distinguishes deafness from hearing loss, in which sufficient amplification of sound provides the possibility of speech communication. A strict distinction between deafness and hearing loss is a certain difficulty; it depends on the hearing research method and is to some extent conditional.

Usually deafness is a pronounced persistent hearing loss that interferes with speech communication in any conditions, even with the use of sound-amplifying equipment. However, such patients can hear some very loud sounds. The absolute impossibility of perceiving any sounds is extremely rare.

Hearing loss is called a decrease in hearing acuity of varying degrees of severity, in which speech perception is difficult, but is still possible when certain conditions are created (approximation of the speaker to the deaf person, use of a hearing aid).

Hearing impairment, depending on the pathogenesis, can be neurosensory or conductive in nature. In case of neurosensory disorder, pathology of the sound-perceiving apparatus (sensitive cells of the cochlea of the auditory nerve and brain structures) is noted. In conductive deafness (hearing loss), the disorder involves the sound-conducting system (outer and middle ear, middle ear fluid).

To make an approximate assessment of your hearing status, you can use whispered and spoken speech (speech audiometry). With a mild degree of hearing loss, whispered speech is perceived by the patient from a distance of 1 - 3 m, conversational speech - from a distance of 4 m or more. With an average degree of T., whispered speech is perceived from a distance of less than 1 m, spoken speech - from a distance of 2 - 4 m. With severe hearing loss, whispered speech, as a rule, is not perceived at all, while spoken speech is perceived from a distance of less than 1 m. A more accurate determination of the degree of hearing loss is carried out using pure-tone audiometry. A mild degree of hearing loss includes hearing loss for tones of the speech range within 40 dB, a moderate degree - about 60 dB, and a severe degree - about 80 dB. Greater hearing loss is considered deafness.

Tuning forks have not lost their importance in diagnosing hearing loss. They are used mainly in a clinic setting, and especially when it is necessary to examine a patient at home. To determine the auditory threshold (the minimum sound intensity still perceived by the subject's ear during air conduction), which characterizes hearing acuity, a tuning fork is placed at the entrance to the external auditory canal so that the axis of the tuning fork (the transverse line between its jaws) is in line with the axis of the auditory canal. passage in close proximity to it; in this case, the tuning fork should not touch the tragus and hair.

Detecting hearing loss in young children presents significant difficulties, since the child cannot give an answer about the presence or absence of auditory sensation. Recently, hearing research in children has been carried out using computer technology by recording auditory evoked potentials, which are an electrical response to sound stimulation, varying depending on the location of the potential and its parameters (computer audiometry).

Auditory evoked potentials can be used to judge the presence of an auditory response in a child of any age, and, if necessary, in a fetus. In addition, this study allows us to make an objective conclusion about the degree of hearing loss, the location of damage to the auditory pathway, and also assess the prospects for rehabilitation measures. The method of objective assessment of hearing in children based on measurements of the acoustic resistance (impedance) of the middle ear has become more widespread in audiological practice.

Hearing loss may be genetically determined. Both dominant and recessive genes are responsible for hereditary deafness. Genetic disorders are perhaps the main cause of sensorineural hearing loss in children. They explain approximately half of the cases of profound deafness in children.

The most common genetic disorders: Usher syndrome, which occurs in 3–10% of patients with congenital deafness; 1 in 70 people is a carrier of the recessive Usher syndrome gene; Waardenburg syndrome, recorded in 1 - 2% of cases; Elport syndrome – 1%. In total, more than 400 different syndromes with different types of inheritance are known.

At Usher syndrome There is deafness, vestibular disorders and retinal pigmentary degeneration, leading to blindness. Most people with Usher syndrome are born with severe hearing loss. One of the first noticeable symptoms of visual impairment is poor vision at night or in dimly lit areas - impaired dark adaptation (night blindness).

Night blindness in most cases appears in adolescence. Later, there is a gradual loss of lateral (peripheral) vision to the so-called “tunnel” vision, although central vision can be quite high for a long time, practically without suffering.

Symptoms of Usher syndrome usually progress over the years. Many people with Usher syndrome also have some balance problems. Usher syndrome is inherited in a classic recessive manner. When two heterozygous carriers of the gene marry, there is a 1:4 chance that the child born will suffer from Usher syndrome. Currently, there is no way to recognize carriers of the gene.

Waardenburg syndrome described by Waardenburg in 1951. Among children with congenital deafness, patients with Waanrenburg syndrome make up about 3%. Variable gene expression is an important reason for the wide clinical polymorphism of this syndrome. This disease is inherited in an autosomal dominant manner. With Waardenburg syndrome, the following is observed:

1) outward displacement of the inner corners of the eyes and lacrimal openings with a normal distance between the pupils and the outer corners of the eyes (99%);

2) high wide nose bridge (75%), hypoplasia of the nostrils and fused eyebrows (50%); "profile of a Roman legionnaire";

3) pigmentation disorder, manifested in the form of gray or piebald strands of hair on the head, usually above the forehead (17 - 45%), heterochromia of the iris (50%), depigmented areas on the skin and fundus of the eye;

4) congenital bilateral sensorineural deafness (20%) or hearing loss due to hypoplasia of the organ of Corti.

In addition to these signs, mental retardation, high palate, sometimes with a cleft, minor skeletal anomalies and heart defects are often found. The most severe of all manifestations of Waardenburg syndrome are hearing impairment, occurring in 20% of cases.

The degree of hearing damage can vary from subclinical to profound complete deafness. Sound perception disorders are often bilateral and symmetrical. A characteristic feature of the disease is hypotrophy of the vestibular apparatus. Using caloric and rotational tests, vestibular disorders are detected in almost 75% of patients, that is, even more often than hearing impairment.

Pathological data indicate that patients with Waardenburg syndrome may experience severe morphological changes in the inner ear, for example, Scheibe type aplasia or even a complete absence of the spiral organ and neurons in the spiral ganglion. These changes arise as a result of a hereditary degenerative process that begins in the prenatal period and destroys the normally formed ear. Apparently, the dominant gene that causes this syndrome causes defective development of the rudiment, from which cells that have different functions are subsequently formed, namely, cells of the sensory epithelium of the spiral organ, neurons of the spiral ganglion, pigment cells, and certain groups of mesenchymal cells. Defective formation of the rudiment leads to disruption of the processes of migration and differentiation of cells formed from it, and subsequently to the inferiority of the corresponding systems.

At Alport syndrome deafness is combined with glomerulonephritis, leading to renal failure. One of the symptoms of neurofibromatosis type II is also deafness caused by the formation of bilateral schwannoma of the vestibulocochlear nerve.

Pendred syndrome described in 1896 Pendred. The disease is characterized by a combination of congenital or detected in early childhood sensorineural deafness with goiter, which develops due to a violation of the biosynthesis of thyroid hormones. Genetic damage to the inner ear occurs in Pendred syndrome in utero; after birth, degenerative changes in the cochlea only continue to progress. They experience progressive hearing loss in the first year of life. In approximately half of the cases, children with Pendred syndrome experience complete deafness, the rest have hearing loss of II – III degrees. The perception of high frequencies is more severely disrupted. The hearing defect is usually bilateral and symmetrical. Almost all patients have vestibular disorders.

To diagnose Pendred syndrome, a perchlorate test is used to confirm dysfunction of the thyroid gland. In children with Pendred syndrome, the radioactivity of the thyroid gland is reduced. Hormonal therapy, although it does not affect the hearing defect, stops the development of goiter and normalizes the function of the thyroid gland.

The disease is inherited in an autosomal recessive manner, so parents of affected children are usually healthy. The frequency of Pendred syndrome, for example, among the population of England reaches 1: 13,000.

In addition to syndromic forms of hereditary deafness, there are non-syndromic (isolated) forms, of which several have been discovered to date. The first gene for isolated hereditary deafness was mapped to the long arm of chromosome 5 in members of a family from Costa Rica. In this case, the type of inheritance was autosomal dominant. The mapped gene for isolated autosomal recessive deafness includes the GJB2/connexin26 gene, which transmits nonsyndromic sensorineural deafness DFNB1, found in the Caucasian population.

The incidence of congenital severe hearing loss or deafness is 1:1000 newborns. At least half of these cases are genetically determined. More often, hereditary hearing impairments are not congenital, but develop in childhood or even later. In 80% of cases, these disorders are inherited autosomal recessively, in 15–20% – autosomal dominant and in less than 1% – X-linked recessive. Autosomal dominant deafness is bilateral and is divided into 2 types: childhood, which occurs before the age of 15, and adult, which develops at a later age. X-linked deafness was discovered in 1965. Fraser Y.R. boys had a sharp disturbance in perception at high frequencies with a threshold of 80 dB to 100 dB.

When a child has hearing loss, this is not only a serious medical, but also a social problem. With early hearing loss, speech development, intellectual and communication abilities suffer, which cannot but affect the personality as a whole. The greatest attention should be paid to newborns and children of the first years of life suffering from hearing loss or deafness.

Hearing pathology can be expressed either in complete loss (deafness) or partial (hearing loss). Absolute hearing loss is rare. Often, at least a minimal perception of sounds remains. At the same time, people consider any hearing problems to be deafness. There are various classifications of this very important ability of the body, relating to one of the five external senses. Hearing impairment can be unilateral or bilateral, congenital or acquired, and may also be associated with problems with conduction or perception of sound.

According to statistics, severe hearing loss is diagnosed in one out of a thousand newborn children.

Conductivity problems

Conduction deafness is understood as a pathological condition when there is a delay in acoustic (sound) vibrations due to the occurrence of an obstacle. We list the main situations when this can occur:

The presence of a foreign body or cerumen plug is detected in the external auditory canal.
Congenital fusion of the external auditory canal.
An acute inflammatory process localized in the middle ear.
Otosclerosis, characterized by immobility of the main auditory ossicles located in the middle ear.
Increased pressure in the inner ear, etc.

Clinical examination reveals that bone conduction is superior to air conduction. If the sound-conducting part of the hearing aid suffers, the patient perceives low frequencies poorly, but better perceives high ones. At the same time, the audibility of low vowels, such as “o”, “u”, “y”, is much worse, in contrast to high ones (“a”, “e”, “i”).

Problems with perception

If the organ of Corti and the auditory nerve at the level of the cochlear branch are damaged, then deafness or sensorineural hearing loss develops. This pathological condition has the following clinical picture:

Characterized by significant or complete hearing loss.
The patient does not recognize speech or perceives isolated sounds. This condition is typical for small children. Because in early childhood, the higher centers in the brain responsible for speech perception have not yet been formed.
High tones are practically not perceived.
Degenerative processes in the inner ear can provoke, as a rule, bilateral damage.
The pathological process is often irreversible.
Bone conduction of sound is affected.

If hearing loss is associated with diseases of the hearing system (for example, inflammatory), then thanks to special therapy this defect can be corrected. In addition, it should be noted that hearing restoration is also possible in case of damage to the vestibulocochlear nerve. However, if the organ of Corti is damaged, it is almost impossible to restore hearing.

Separately, I would like to mention deafness, which has a central origin. As difficult as it may be to guess, diseases of the central nervous system lead to this hearing pathology, which will have the following symptoms:

Only bilateral lesions are noted.
The patient has difficulty hearing high and low tones.
There is no insular loss of sound.
The patient is not able to navigate the features of sound (its pitch, intensity, duration, etc.).
Can perceive noise and individual sounds, but does not recognize spoken speech.

In approximately 80% of children with hearing loss, hearing pathology begins to develop in the first 12 months of life.

Mixed deafness

The most common type of hearing impairment is mixed deafness or hearing loss. At first, changes of a purely functional nature are determined, but over time they become more persistent and lead to mixed deafness. There is a deterioration in air and bone conduction. The audibility of high tones suffers the most. If the disease affects only the organ of Corti in isolation, then diagnosing sound pathology will be relatively easy.

The most severe form of damage to the hearing system is considered to be mixed type deafness in two ears. There are quite serious problems with the perception of speech sounds. If the cause of the disease is not eliminated, over time, spoken speech becomes completely unintelligible for patients.

Hearing diseases

It is quite natural that many hearing diseases can cause deafness or hearing loss of varying severity in children and adults. For example, problems with sound conduction may occur if the outer ear is found to have:

Inflammatory phenomena.
Bone neoplasms.
Accumulation of wax in the ears.
Foreign bodies, etc.

Congenital closure of the external auditory canal is often combined with ear deformation and developmental abnormalities of other parts of the hearing organ. In such situations, we are talking about mixed deafness. Inflammatory and degenerative diseases of the middle and inner ear, such as otitis media, labyrinthitis, mastoiditis, otomycosis, Meniere's disease and others, can provoke the appearance of deafness or mixed hearing loss.

Traumatic deafness

Serious hearing problems due to injury are quite common. This type of deafness and hearing loss can be caused by mechanical damage, acoustic trauma and extremely sudden changes in atmospheric pressure. Each type of traumatic factor has its own characteristics of impact on the hearing aid.

Longitudinal skull fractures will damage the structures of the middle ear. If a transverse fracture of the skull is observed, the labyrinth, which is the inner ear, is injured. The main symptoms of trauma to the auditory and vestibular system are the appearance of tinnitus, dizziness, problems with balance and gradual or sudden weakening of hearing up to complete deafness.

Today, acoustic trauma to the hearing aid as a result of extremely strong sound or noise is a very common phenomenon. As a rule, bilateral hearing loss is observed. There is a disturbance in the perception of sound. Bone conduction deteriorates more than air conduction. If you do not consult a doctor in a timely manner, the patient's condition will only worsen.

An audiologist is a highly specialized doctor who deals with hearing pathology in children and adults.

Otosclerosis

In accordance with medical terminology, otosclerosis is a chronic disease in which there is a focal pathological process in the inner ear, ending with immobilization of the auditory ossicles and the development of deafness. The disease affects all age groups. However, it is most often found in young and middle age. At present, it has not yet been possible to establish the cause of the disease. Suggestions have been made about the negative impact of inflammatory and infectious effects on the hearing aid. Main clinical symptoms and signs of otosclerosis:

The leading manifestation of the disease is rapid or gradual progression of hearing loss and distinct tinnitus.
Sometimes the condition stabilizes, but over time the hearing continues to deteriorate. Spontaneous recovery or improvement in the perception of sound signals is not typical for both hearing loss and deafness.

Hearing loss is usually bilateral.
The patient perceives spoken language better in noise. This is a characteristic sign of the disease, which is also called Willis’s symptom. It is detected in approximately 50% of people suffering from otosclerosis.
It is also difficult for the patient to perceive speech when several people are talking at the same time.
The second constant sign of the disease is the sensation of tinnitus, which is observed in the prevailing proportion of patients (from 70 to 95%).
The noise can be localized in one or both ears, less often in the head.
In the first stages of the disease, the sensation of noise is observed exclusively in silence, but as the pathology progresses, this extremely unpleasant symptom begins to bother you in any environment.
The vestibular apparatus, as a rule, is not affected.

To confirm the diagnosis of otosclerosis, audiological and radiological research methods are used. A clinical examination can only establish the presence of hearing problems and assess the condition of the external auditory canal.

Hereditary deafness

As clinical practice shows, hereditary deafness is diagnosed an order of magnitude less frequently compared to congenital and acquired hearing impairment. The hereditary nature of the disease is confirmed only when this pathology is detected in one of the close relatives. The disease is characterized by both dominant and recessive types of inheritance. In the first option, in addition to hearing problems, there are other hereditary anomalies, including:

Extra fingers and/or toes.
Finger fusion.
Retinitis pigmentosa, etc.

In addition to the absence of additional pathology, the recessive type of inheritance also differs from the dominant one in that deafness manifests itself after two or more generations. This causes a lot of difficulties in diagnosis, since there may be no relatives who would confirm or deny the presence of a burdened heredity. As a rule, the child retains residual hearing, but very little. Therefore, most likely he will experience not hearing loss, but deafness. In extremely rare cases, patients with hereditary deafness are able to perceive speech sound at a very short distance (on average up to one meter).

Congenital deafness and hearing loss

The fifth week of pregnancy is the period when the hearing organs are formed, which continue to develop until birth. It is worth noting that the temporal region of the cerebral cortex, which is the auditory center that analyzes sound signals from the outside, continues to mature until the age of 6.

We list the main factors that can lead to the development of congenital hearing loss and deafness:

Unfavorable course of pregnancy. It has been established that in the presence of toxicosis, anemia, nephropathy, the threat of miscarriage and Rh conflict during the period of bearing a child, the risk of congenital pathology of the hearing organs increases sharply.
While pregnant, the woman suffered from infectious diseases of a viral or bacterial nature. The most dangerous diseases are herpes infection, rubella, toxoplasmosis, etc.
Chronic diseases of the mother (serious problems with the heart, kidneys, liver, pancreas, etc.).
The woman, while pregnant, was treated with drugs that negatively affect the development of the child’s hearing organs (aminoglycosides, tetracyclines, ethacrynic acid, salicylates).
Radiation.

If hearing loss or deafness develops before the 7th day of a child’s life, it is still considered a congenital disease. Factors that can cause the development of congenital pathology of the hearing organs in children:

Any manipulations during childbirth that led to the development of asphyxia of the child or birth trauma.
Pathological birth.
Abnormal presentation and position of the fetus in the womb (for example, pelvic or facial).
The use of surgical aids during obstetrics. This may involve the use of obstetric forceps, a vacuum extractor, etc.
The occurrence of bleeding during childbirth, premature placental abruption, etc.

Today, many medical institutions are equipped with modern equipment that allows hearing tests to be carried out even in newborns. Therapeutic measures to restore hearing will be effective if the disease is detected in a timely manner. The optimal period for diagnosing disorders in a child is 3-4 days after birth.

Pathology of the hearing organs in children is quite difficult to diagnose in infancy and early age.

Acquired deafness and hearing loss

If hearing loss due to exposure to unfavorable factors occurs after birth, then they speak of an acquired pathology. The cause may be injuries to the organs of the hearing aid, as well as inflammatory, infectious and degenerative diseases of any part of the ear. In addition, hearing loss and deafness are often a complication of a number of diseases, in particular:

Acute respiratory viral infections.
Mumps.
Diphtheria.
Scarlet fever.
Sepsis.
Inflammatory and infectious diseases of the brain and its membranes.

Also, vaccinations, drug intoxication and traumatic brain injuries can also lead to hearing problems. In addition, modern youth very often listen to loud music using headphones, which negatively affects the hearing aid and creates the preconditions for the development of hearing loss.

Parents should constantly pay attention to the behavior of their young child. What may indicate a hearing impairment:

The baby does not understand where the source of the sound is.
There is no reaction to the speech sound of his mother or any other people who surround him.
There is absolutely no reaction to loud sounds. Quite often this is noticeable when the doorbell rings or when the phone rings.

Hearing restoration

Few specialists will give you a definite answer that the treatment he prescribes will 100% help a child suffering from hearing loss. At the same time, if there is even the slightest hope of improving the condition, you should always use this chance. What factors determine the fate of children with hearing pathology:

The age of the child at which hearing loss or deafness began to develop.
When a defect was discovered.
The severity of damage to the hearing aid.
Correct assessment of residual hearing.
Timely initiation of therapeutic measures. The feasibility of using certain therapeutic and surgical methods to restore hearing is determined individually in each specific case.

By and large, today they are trying to treat sensorineural hearing loss and otosclerosis, as well as primary inflammatory and infectious diseases that led to hearing impairment.

Medicines are used that dilate blood vessels and improve blood circulation in the brain and inner ear. Most often they resort to the appointment of Complamin and Cavinton. Aminalon and Encephabol have a positive effect on the functioning of the central nervous system. To improve the conduction of nerve impulses, Galantamine is used in the form of electrophoresis. Prozerin and Dibazol have a similar effect.

In addition to drug therapy, physiotherapeutic methods are used (laser, magnet, hyperbaric oxygenation, etc.). Defectological, deaf-pedagogical and motor rehabilitation also have a beneficial effect. However, in most cases, the only correct solution for many children with sensorineural hearing loss is the use of hearing aids.

The main goal of treatment for otosclerosis is to restore sound conduction. To correct hearing loss associated with otosclerosis, modern hearing aids are used, which significantly improve the patient’s quality of life. Quite often, electroacoustic hearing correction is used as a treatment method.

In addition, in some cases, a surgical operation called stapedoplasty is performed and consists of restoring the mobility of the main auditory ossicles. Disability after surgery is about 30 days. For several more months, the operated patient is not recommended to move his head sharply, jump, run, fly on airplanes, or use the subway. The prognosis for hearing restoration in otosclerosis will mainly depend on the extent of the pathological lesion in the inner ear.

There are two groups of causes of deafness: congenital and acquired.

Congenital hearing impairment.

Among newborns, congenital hearing defects occur with a frequency of 1:2000 births. Congenital deafness represented by several subgroups. First subgroup combines cases of damage to auditory function due to genetic mutations. Currently, more than 50 genes responsible for hearing acuity have been discovered. Initially occurring harmful mutations in these genes cause disturbances in sound perception.

hearing apparatus, i.e. sensorineural hearing loss. For example, mutations in the GJB2 gene lead to excess calcium ions in the hair cells of the cochlea, which causes their death. Sometimes gene mutations, such as the N-AT2 gene,

can only provoke hearing impairment under the influence of some external factor, for example, taking ototoxic drugs by a pregnant mother or child. The incidence of genetic hearing impairment ranges from 36 to 85% of all cases of congenital deafness. Harmful mutagenesis is caused by irradiation, chemical influences, biological effects of bacteria and viruses.

Hereditary deafness(when a genetically defective hearing gene is inherited) occurs, as a rule, in families of deaf parents. The frequency of marriages among deaf people is 4–6 times higher than in the population as a whole. That's why

familial forms occur quite often and, according to various authors, range from 30 to 50% of all cases of congenital deafness (B.V. Konigsmark, R.D. Gorlin, I.V. Koroleva). There are also known cases of consanguineous marriages among hearing people, in which hereditary

the deafness gene manifests itself with devastating force. Thus, in Tunisia, among the residents of the village of Burjak al-Salkhi, the majority of residents - blood relatives - are deaf. The same phenomenon is typical for the royal houses of Europe, famous for their close marriages, including the houses of Spain and Great Britain.

To the second subgroup of congenital deafness include intrauterine hearing disorders in the absence of genetic and hereditary burden. The reasons are:

– infectious diseases of the mother in the first three months of pregnancy: rubella, influenza, scarlet fever, measles, herpes, mumps (mumps), chicken pox, tuberculosis, polio, syphilis, toxoplasmosis;

– maternal intake of ototoxic drugs (antibiotics, quinine derivatives, furosemide, aspirin);

– alcoholism and drug addiction of the mother;

– injuries;

– discrepancy in the Rh factor of the blood of the fetus and mother;

– diabetes mellitus;

– severe maternal allergies.

The third subgroup (let us conditionally designate it as borderline) of congenital deafness is the deafness of a newborn due to birth injuries. The latter are a significant risk factor for hearing loss. These include:

– fetal asphyxia;

– traumatic brain injury in case of application of forceps;

– carrying out intensive care for a newborn in an incubator: artificial ventilation of the lungs with a violation of the oxygen regime or exceeding the period of more than 5 days.

Syndromic forms of congenital hearing impairment. Hearing defect as a combined sensory defect occurs in 250 genetically determined and acquired diseases. A teacher of the deaf needs to know about at least some of them, the most common ones.

Usher syndrome. It is a hereditary disease. Among children with congenital deafness ushers make up 3–10%. The syndrome is characterized by congenital sensorineural deafness (hearing loss) and blindness (low vision) that appears in the first or second decade of life. Mental retardation or schizophrenia-like psychoses may occur in 25% of patients. Recent studies have shown that the genes responsible for Usher syndrome are localized on many chromosomes: 14, 11, 10, 21, 5, 3. Recognition of the syndrome is possible only from the onset of peculiar symptoms of visual impairment, which appear most often in adolescence (narrowing of visual fields, t e. tunnel vision, dark adaptation disorder

tions, swaying “drunk” gait, “shifty eyes”, etc.). There is another variant of the manifestation of Usher syndrome (adult): in an individual born completely normal in sensory terms, over time, in adulthood, hearing and vision impairment occur simultaneously.

Since developing pathological processes are irreversible, the essence of helping such children (individuals) lies in correctional and pedagogical measures, including preparation for life in conditions of blindness, mastering the Braille font.

Waardenburg syndrome occurs with a frequency of 1:4000 births. Among children with congenital deafness, children with this syndrome account for 3%. It is a hereditary disease. The gene is localized on chromosome 2 (2q). Often

these children are classified as deaf of unknown etiology. However, they can be identified by a fairly clear set of clinical signs: shortening of the palpebral fissure, high nose bridge (“Roman legionary profile”), depigmentation of hair and skin, all this in combination with deafness or hearing loss. Some children with this syndrome may experience mental retardation or primary delay, so it is necessary to determine an adequate trajectory for correcting their development as early as possible.

Let us pay special attention to the syndrome Gregg-Swan (Gregg triad), which occurs when the mother falls ill with rubella in the first third of pregnancy (the probability of damage to the fetus is very high: 50–80% of cases). In children with this syndrome, a combination is observed: mental retardation, deafness (50% of cases), visual impairment (80%), impaired motor coordination, emotional lability.

Acquired hearing impairment.

There is a clear dependence of the prevalence of acquired deafness on age. If congenital deafness predominates in the first year of life, then acquired deafness predominates with age. Thus, epidemiological studies in the USA in 1999 showed that among the elderly

36% of people aged 36% suffer from hearing impairments that interfere with normal social contact, while among people under 25 years of age this percentage does not exceed 1%. According to the World Health Organization, it is the age factor that explains the large epidemiological difference between the frequency of childhood deafness (0.18% of the child population) and the frequency of hearing impairment, which prevents social contact among the world’s population (5–6%). The main cause of age-related hearing pathologies is neuritis, i.e., necrosis of the auditory nerve due to age-related deterioration of blood circulation.

The causes of acquired deafness are varied. These include the following. Acute otitis, i.e. inflammation, usually of the middle ear,

in which accumulating pus destroys the auditory ossicles or perforates the eardrum. The prognosis for treatment of the consequences of otitis media is favorable, since prosthetics of damaged eardrums and auditory ossicles are currently being successfully carried out.

Infectious diseases: meningitis, measles, scarlet fever, influenza, mumps, in which, as a rule, the sound-receiving parts of the auditory analyzer in the inner ear become infected and inflamed, and then functionally affected: the receptors of the cochlea and the auditory nerve. Forecast

restoration of auditory function lost due to infectious diseases is favorable in the case when the cochlea is damaged, but the auditory nerve is preserved: in this case, a special type of hearing aid comes to the rescue - an implantable cochlear implant. In case of defeat

For the auditory nerve, the prognosis is unfavorable, since modern medicine does not have medicinal or surgical methods to restore the function of the nerve, and attempts to prosthetize it have so far been unsuccessful or are at the stage of experimental testing. Taking ototoxic drugs by a child: antibiotics, quinine and its derivatives, aspirin, furosemide; These medications have a toxic effect on the sound-receiving parts of the auditory analyzer in the inner ear. The prognosis for restoration of auditory function lost due to toxic lesions is currently similar to the previous one.

Otosclerosis, in which the auditory ossicles calcify and become immobile; As a result, they lose the ability to transmit sound waves to the internal part of the auditory analyzer. The prognosis is favorable, since surgical intervention is currently being successfully carried out, i.e. prosthetics of the indicated components of the auditory analyzer. Neuritis is age-related death of the auditory nerve due to

weakened blood circulation, which leads to a lack of nutrition of nerve cells. The prognosis is unfavorable for the reasons already mentioned above.

Injuries leading to morphological disorders of the auditory analyzer. Congenital malformation of the ear: fusion of the ear canal, absence of the auricles. Yu. B. Preobrazhensky and L. S. Gordin (1973) identified the frequency of causes of hearing anomalies (in%):

– congenital anomaly of ear development – 0.8;

– deafness in close relatives – 2.0;

– prematurity – 4.4;

– prolonged labor – 1.3;

– asphyxia during childbirth – 5.1;

– use of obstetric forceps or vacuum – 1.6;

– birth trauma –2.1;

– unknown cause –8.2;

– middle ear disease – 18.0;

– meningitis –3.0;

– flu – 9.5;__

– measles – 9.4;

– mumps – 3.7;

– whooping cough – 0.7;

– treatment with antibiotics – 0.8;

– child’s allergies – 0.4;

– mechanical injury – 2.3;

– the reason has not been established – 21.1.

A slight increase in the proportion of children with hearing impairments is explained by a number of reasons that will continue to operate with increasing force:

– improvement of medical care, obstetric care (when, instead of death, for example, from meningitis, the child survives, but remains hearing impaired);

– achievements of early diagnosis, the methods of which are becoming more and more effective, and early diagnosis itself is becoming a mandatory medical and pedagogical policy of developed countries;

– deterioration of maternal health;

– deterioration of the habitat.

Hereditary pathology of the hearing organs Deafness is a pronounced persistent
hearing loss that interferes with
verbal communication in any conditions.
Hearing loss is a decrease in hearing of various types
degree of expression at which
speech perception is difficult, but still
possible when creating certain
conditions

Meniere's syndrome

a disease characterized by damage to the structures of the internal
ear, manifested by ringing in the ears, dizziness and transient
hearing disorder.
The average age of patients ranges from 20 to 50 years, but the disease can
also occur in children. The disease is somewhat more common in people
intellectual work and among residents of large cities.
no connection with a specific gene was identified, familial
predisposition to developing the disease

The most common theory about the occurrence of the disease is a change in fluid pressure in the inner ear. membranes,

Causes and symptoms
The most common theory about the occurrence of the disease is a change
fluid pressure in the inner ear. Membranes located in the labyrinth
gradually stretch as pressure increases, leading to disruption
coordination, hearing and other disorders.
Risk factors also include:
Vascular diseases
Consequences of head, ear,
Inflammatory diseases of the inner ear,
Infectious processes.
Main symptoms:
Periodic attacks of systemic dizziness;
Balance disorder (the patient cannot walk, stand or even sit);
Nausea, vomiting;
Increased sweating;
Decreased blood pressure, pale skin;
Ringing, noise in the ear(s).

Otosclerosis

Otosclerosis is a pathological growth of bone tissue
in the inner ear and other components of the auditory system
person, in which a change in the composition of the bone occurs
fabrics. With otosclerosis, the mobility of the auditory ears is impaired.
ossicles, coordinated transmission of sounds, appears
sensation of ringing in the ears, as a result of which occurs
progressive hearing loss.

Reasons

Currently, the causes of otosclerosis are not
studied. The disease occurs more often in women, in
puberty, menstruation,
pregnancy, breastfeeding and menopause.
Genetic traits:
inherited in an autosomal dominant manner
type
Monozygotic twins have almost
100% concordance for otosclerosis.
Measles virus (possible cause) (Upon investigation)
archival and recent samples of stapes plates
virus RNA was detected)

Symptoms

dizziness, especially with sudden
tilting or turning the head,
attacks of vomiting and nausea,
congestion of the ear canal,
headache,
sleep disorder,
decreased attention and memory.

Waardenburg syndrome

hereditary disease. Has the following clinical signs:
telecanthus (lateral displacement of the inner corner of the eye),
heterochromia iris,
gray strand above forehead
congenital hearing loss of varying degrees.
Pathology of the extremities includes such anomalies as
hypoplasia of the hands and muscles,
limited mobility of the elbow, wrist and interphalangeal muscles
joints,
fusion of the individual bones of the carpus and metatarsus.
Hearing loss in this disease is congenital, of the perceptive type,
associated with atrophy of the vestibulocochlear organ (organ of Corti). Deafness
caused by disorders of the spiral (corti) organ with atrophic
changes in the spiral ganglion and auditory nerve.
Waardenburg syndrome occurs with a frequency of 1:40,000.
Among children with congenital deafness it is 3%. The syndrome is determined
an autosomal dominant gene with incomplete penetrance and
varying expressiveness

Pendred's syndrome

genetically determined disease, characterized by congenital
bilateral sensorineural hearing loss combined with
vestibular disorders and goiter (enlarged thyroid gland)
glands), in some cases combined with hypothyroidism
(decreased thyroid function).
Etiology
a disease with an autosomal recessive pattern of inheritance. Gene,
responsible for the development of the syndrome is localized on
7q31 chromosome and is expressed mainly in the thyroid
gland
The specified gene encodes the synthesis of the protein pendrin, physiological
whose function is to transport chlorine and iodine through
thyrocyte membrane

Hearing loss in Pendred syndrome usually develops during the first year of life and may be gradual and provoked.

minor head injury. If deafness
is innate, then mastery of speech represents
serious problem (deaf muteness). - dizziness may
occur even with minor head injuries. Goiter
present in 75% of cases.

Hereditary pathology of the organs of vision

Cataract
pathological condition associated with clouding of the lens of the eye and
causing varying degrees of visual impairment up to complete
his loss.
Symptoms:
objects are seen unclearly, with blurred contours.
The image may appear double.
The pupil, which normally appears black, may become grayish
or yellowish tint.
With a swelling cataract, the pupil becomes white.
increased or decreased photosensitivity.
Congenital cataracts in a child may manifest as strabismus,
presence of a white pupil, decreased vision, which is detected by
lack of reaction to silent toys.

Prenatal infections
1. Congenital rubella is accompanied by cataracts in approximately 15%
cases. After 6 weeks of pregnancy, the lens capsule is impenetrable
for the virus. Lens opacities (which may be
unilateral and bilateral) most often occur already with
birth, but can develop after a few weeks or even
months. Dense pearlescent opacities may involve the core
or located diffusely throughout the lens. The virus is capable
persist in the lens for 3 years after birth.
2. Other intrauterine infections that may be accompanied
cataracts are toxoplasmosis, cytomegalovirus, simplex virus
herpes and chicken pox
Chromosomal disorders
1. Down syndrome
2. Other chromosomal disorders,
accompanied by cataracts: Patau syndrome and
Edward

Glaucoma

Glaucoma (ancient Greek γλαύκωμα “blue clouding of the eye”; from γλαυκός “light blue,
blue" + -ομα "tumor") - a large group of eye diseases,
characterized by a constant or periodic increase in intraocular
pressure with subsequent decrease in visual acuity and optic nerve atrophy
Genetic cause:
A positive family history is a risk factor for glaucoma.
Relative risk of developing primary open-angle glaucoma (POAG)
increases approximately two to four times for individuals who have a sister with
glaucoma. Glaucoma, especially primary open-angle, is associated with mutations in
several different genes
Symptoms:
eye pain,
headache,
the appearance of halos around light sources,
pupil dilation,
decreased vision,
redness of the eyes,
nausea and vomiting.
These manifestations may last for an hour or until the IOP decreases.

Myopia (nearsightedness)

This is a common pathology of eye refraction in which the image of objects
formed BEFORE the retina. In people with myopia or increased
eye length - axial myopia, or the cornea has a large
refractive power, which results in a small focal length, refractive myopia
hereditary factors determine a number of defects in protein synthesis
connective tissue (collagen), necessary for the structure of the eye shell
sclera. Lack of various microelements in the diet (such as
Zn, Mn, Cu, Cr, etc.), necessary for the synthesis of the sclera, can contribute
progression of myopia.

Prevention and treatment

LIGHTING MODE
Correct vision correction
VISUAL MODE AND
PHYSICAL ACTIVITY -
MUSCLE TRAINING
GYMNASTICS FOR THE EYES
General strengthening activities swimming, collar massage
zones, contrast shower
COMPLETE NUTRITION –
balanced in protein,
vitamins and microelements
such as Zn, Mn, Cu, Cr, etc.