Congenital hearing loss in a child. Deafness symptoms, treatment, description. How diseases are diagnosed

Hearing loss is a gradual decrease in hearing, in which there is a violation of the sensation of sound waves and noise, as well as dysfunction of speech communication. There are several types of hearing loss, in which the degree of the disease is characterized both from the smallest, almost imperceptible change in hearing acuity, and severe damage to the hearing aid, up to deafness.

To diagnose inflammation and a comprehensive examination, it is necessary to visit the office of an otolaryngologist and an otoneurologist. Only with their help it is possible to establish the classification and type of inflammation, as well as undergo treatment.

Congenital hearing loss is rare. To diagnose it, it is necessary to undergo comprehensive examinations, including otoscopy, and other types of studies that will help determine the classification and stage of the disease.

Depending on the nature of the disease, the patient is prescribed drug therapy and special exercises, including massage or hearing aids and the selection of an individual hearing aid.

However, in some cases, the patient may benefit from tympanoplasty or implant placement.

But first, let's look at the causes of congenital deafness. According to Russian data, only about din infant out of a thousand suffer from congenital hearing loss.

Inflammation and persistent hearing loss appears due to a developmental disorder within the mother or due to a pathological change in the structure of the middle ear. Another reason is neurological disorders.

Although there is another opinion why congenital deafness occurs in children, many experts believe that half of children with hearing problems have a genetic predisposition. There is even a certain scheme according to which heredity is divided into forms.

Genetic forms differ significantly from acquired diseases and hearing loss. Therefore, it is still necessary to recognize congenital forms when planning a baby. So, there is an otological, audiological and physical examination of the health of future parents, in which a person’s DNA is examined and testing is carried out for hearing loss.

With mutations in the genes that are responsible for hearing, the baby has a 99 percent chance of developing congenital hearing loss or even deafness.

Causes of congenital deafness in a newborn

Congenital hearing loss and persistent hearing loss in babies is often transmitted in an autosomal recessive manner, and a little less often in a dominant pattern.

When diagnosing these data, the baby develops progressive and pathological changes in the structure of the ear organ.

In this case, disturbances in the perception of sound waves can be noticed during the first months of a baby's life. Often a child is diagnosed not with one-sided, but with bilateral inflammation and hearing loss.

In 70 percent of children, this form of hearing loss occurs in isolation, and in other situations, diagnosing problems with the perception of sounds is due to a genetic predisposition.

Inflammation and the formation of hearing loss in babies occurs due to several reasons.. Most often, hearing problems occur during the development of the fetus. If during pregnancy the expectant mother suffered rubella, measles, flu or colds, tuberculosis, syphilis and other dangerous inflammations, the baby will collect in formation.

These diseases always lead to hearing loss and problems in the middle ear, which causes congenital hearing loss. In this case, children can have both a mild form of inflammation and develop a complete lack of audibility of sound waves.

inflammation during pregnancy

In addition, the causes of congenital hearing loss may appear due to chronic inflammation in the mother. Such diseases include:

• diabetes;
• pathological inflammation, in which excessive secretion of hormones is formed - hyperthyroidism;
• reduced hemoglobin in the blood;
• avitaminosis.

In addition, if a pregnant woman takes antibiotics or other ototoxic drugs during pregnancy, such as neomycin or streptomycin, the fetus may develop abnormalities.

Another common reason for becoming work in dangerous places, addiction to alcohol and cigarettes, as well as drugs.

Rarely, but still a common cause is baby prematurity. In this case, hearing problems are diagnosed in twenty-five percent of babies.

Acquired inflammation

Hearing loss can be not only congenital, but also acquired in childhood. At this time, it is important to monitor the hygiene of the baby's ears and inspect the ear canal for sulfur plugs and the presence of foreign objects every day.

In addition, do not forget to undergo scheduled examinations at the ENT doctor, as inflammatory processes in the ears and the first signs of education or other diseases, an experienced doctor will notice during an external examination.

With a fluffy state and exacerbation of inflammation, the likelihood of hearing loss is high.

Prevention and forecasts

You can notice the first signs of hearing loss in a baby on your own. If a child does not respond to a name, does not respond to loud noises, and does not turn his head to harsh cries behind, the baby has obvious hearing problems.

Timely detection of deafness and signs of hearing loss will help in treatment and a favorable outcome. Otherwise, the child may have serious problems with verbal communication, common development, socialization in society.

With early treatment, almost eighty percent of the prognosis is positive. Congenital hearing loss is being treated in the clinic, and to prevent hearing problems, during pregnancy, you need to protect yourself from viral inflammations, not be in crowded places during the development of respiratory diseases, eat as many vegetables and fruits as possible.

It is also necessary to get vaccinated on time, which will ensure safety against ENT diseases. In addition, refuse to take antibiotics and other dangerous medications that in every possible way reduce the immune system.

Hearing loss is a significant hearing loss that impairs the perception of sounds, speech intelligibility, interfering with communication. You can compensate for this shortcoming with the help of a hearing aid, while speech communication is restored.

With deafness, the ability to perceive speech is not preserved. Deafness is a profound hearing loss, the inability to hear loud speech near the ear.

Deafness is a complete hearing loss, and hearing loss is a partial hearing loss.

When speech changes are observed, the person gradually loses control over the voice. Speech changes, becomes monotonous, non-rhythmic, it is difficult for a person to control the volume, to put the correct stress in words.

At the age of 50 - 60 years, the number of people with hearing impairments is about 1/5 of the entire population. At the age of 60-70 years, the proportion of hearing-impaired and deaf people increases to 1/3, and at the age of over 70, 2/5 of the elderly have hearing loss.

Up to 1/6 of the world's population suffers from various degrees of hearing loss and deafness.

In absolute terms, there are 360 ​​million people in the world with deafness and hearing loss. 80% of them have below average income. Hearing impairment does not allow these people to get a decent job, to achieve a high social status.

The complexity of social adaptation lies in the lack of a proper level of hearing aid, for example, in developing countries out of 40 people who need hearing aid, only 1 person has a hearing aid.

Hearing loss is considered a physiological process, with old age people's hearing deteriorates.

Already by the age of 40, there is a deterioration in the perception of high frequencies. This process often goes unnoticed, but over time, the perception of parts of the range of low-frequency sounds is also lost. Hearing loss begins to affect a person's quality of life.

Signs and early symptoms of hearing loss in children

The difficulty for timely recognition is deafness in children. Signs of deafness in a young child can be frequent asking again, this phenomenon is observed with presbycusis - a gradual bilateral hearing loss as they grow older.

With presbycusis, the ability to hear high frequency sounds is lost. The child does not hear the sound of the phone, the chirping of birds.

Deafness in a child is a serious problem for families. In developed countries, hearing with the help of special objective methods is already checked in newborns, the earlier hearing loss is detected, the more likely the child is not to lose hearing.

With congenital deafness and severe hearing loss, parents notice the problem very quickly, but with minor hearing impairments, measures are not always taken on time. On average, hearing problems in children in Russia are detected by the age of 2.5 years.

Types and degrees of hearing loss

The degree of hearing loss characterizes the ability to hear and perceive speech. With the initial degrees of hearing loss, the patient is not able to distinguish between whispered speech (at 25-39 dB), colloquial speech(40-69 dB). With a deep stage of hearing loss, the patient does not distinguish between loud sounds, a cry (70-94 dB) at the very ear.

Deep degrees of deafness are characterized by an almost complete inability to receive sound with an intensity of up to 90 dB.

The ability to perceive louder sounds in many patients with deafness is preserved.

An example of such "residual" hearing is a loud scream above the ear. However, the intelligibility of speech is completely violated, the patient cannot perceive the words, with deafness, the ability to understand speech is lost.

Absolute deafness, in which the ability to hear is completely lost, is quite rare. Even in difficult cases of deafness, there are opportunities for partial restoration of hearing functions.

May be congenital or acquired. With congenital deafness, the baby is not able to hear from birth. Hearing loss can be compensated in these cases with the help of hearing aids.

Causes of congenital deafness in a child include:

1. infectious diseases women when carrying a child - mumps, meningitis, measles, influenza, otitis media, encephalitis, rubella;
2. oxygen deficiency child at birth, prematurity, low birth weight, neonatal sepsis;
3. congenital infectious diseases – HIV, toxoplasmosis, herpes;
4. hereditary predisposition- up to 50% of all cases of congenital deafness;
5. abuse women with alcohol, drugs, chemical poisoning while carrying a baby.

Deafness since childhood

According to WHO, 25% of hearing loss and deafness originate in childhood, half of these diseases can be prevented. The impetus for hearing loss at an early age and the progression of hearing loss are childhood diseases - measles, rubella, mumps, meningitis.

Persistent hearing loss can be caused by the use of ototoxic medications.

If a child loses his hearing early, his speech will be distinguished by a number of defects. In persons with congenital deafness, speech does not develop, and dumbness becomes a consequence of deafness. Normal speech is formed if the child hears and understands speech before the age of 3.

Speech skills acquired at the age of 2-3 years are preserved throughout life.

A child who has lost his hearing at this age is able to read lips. In addition, by repeating the facial expressions of the speaker, the child is able to pronounce words independently. Treatment of children for deafness is accompanied by learning to read lips. Children with partial hearing loss are engaged with a speech therapist, learning to write.

Toddlers who are deaf from birth are taught sign language, there are different options - French, English, German. Within the territory of former USSR a unified Russian sign language prevails. In addition to this language, there is a variant of a sign language that is understood all over the world - the "International ABC of Signs".

hereditary deafness

To date, 16 types of hereditary deafness are known, usually the cause of hearing pathology is sensorineural deafness caused by disorders in the inner ear. With anomalies in the development of the inner ear, deafness manifests itself already in newborns.

Anomalies of development are the underdevelopment of the cochlea, semicircular canals, the absence of the organ of Corti.

Hereditary deafness can be caused by genetic mutations. So, there is a hereditary gene change that disrupts the ability of inner ear neurons to transmit a signal. Genome research allows us to hope for the creation of drugs that restore the conductivity of neurons.

Acquired deafness

A sharp decrease in hearing, deafness can occur suddenly as a result of strong physical stress, stress, overheating, hypothermia. Sudden deafness can be unilateral or bilateral. Hearing loss is often accompanied by dizziness, tinnitus. Noise in the ears with sudden deafness, as a rule, does not go away. Deafness can be caused by:

1. infection;
2. vascular disorders;
3. antibiotics;
4. diabetes;
5. tumors.

Features of treatment

In the treatment of deafness, methods drug therapy powerless. More often it is necessary to resort to hearing aids, arthroplasty. Audiology is the study of deafness and hearing loss. A way to correct hearing in children can be the use of special devices that amplify the sound.

In case of serious hearing impairment, they are selected, if it is impossible to improve hearing with a hearing aid, a cochlear implant is implanted in the patient.

In patients with, an operation is used that allows sound to be conducted not through the middle ear, but along the temporal bone. To do this, during the operation, titanium implants are installed in the patient, and the sound receiver is attached to the ear. This operation can significantly improve the ability to receive sound.

New perspectives in the treatment of deafness

The treatment of deafness is under the scrutiny of scientists. At the University of Montpellier, a group of scientists is working on a project to use nanoparticles to restore hearing. The NanoEar project is aimed at finding effective non-surgical interventions. The use of nanoparticles will make it possible to treat hereditary and senile deafness, slow down the aging process of sensitive cochlear cells.

The goal of the project is to obtain tools to penetrate the sensitive cell and restore its functionality. The development of NanoEar opens up new possibilities in hearing prosthetics, even with deafness and profound hearing loss.

Understanding the scale of the problem of increasing hearing loss and deafness in the world has led to the official recognition of national sign languages, the widespread use of sign language interpretation, and ensuring the rights of people suffering from hearing loss. The development of new medical technologies that explore the possibilities of hearing loss compensation are carried out in many countries of the world.

Hearing loss is a reduction in the ability to perceive and understand sounds. It can be temporary or persistent - when the decrease in sound perception persists for 3 months or more. Partial hearing loss is called hearing loss, but if a person does not perceive sounds with a loudness of more than 91 dB, we are talking about deafness.

In practice, deafness means that the patient does not hear a scream at the ear, while normally a person is able to distinguish a whisper at a distance of 6 meters.

How we hear, or the mechanisms of sound perception

The auricle and ear canal "collect" sound waves, directing them to the eardrum. The tympanic membrane transmits vibrations caused by sound to a chain of auditory ossicles that communicate with the so-called cochlea, a structure in the inner ear that converts mechanical vibrations into nerve impulses. The latter pass along the vestibulocochlear nerve to the auditory zones of the cortex of the temporal lobe of the brain, where they are processed, being realized as sound. Pathology of any department of this chain can cause hearing loss.

Classification of hearing impairment

Types of deafness:

• conductive - caused by a violation of sound conduction due to a decrease in the mobility of the eardrum and auditory ossicles;
• sensorineural - caused by a violation of the formation and transmission of a nerve impulse (pathology of the cochlea, vestibulocochlear nerve) and its perception by the temporal lobe of the cerebral cortex;
• mixed.

Conductive hearing impairments include, for example, deafness in otitis media, when an inflammatory effusion that fills the middle ear cavity disrupts the normal movements of the membrane and auditory ossicles. Conductive deafness is a relatively favorable option, since it can be cured, even if in some cases a microsurgical operation is required (tympanoplasty - restoration of the eardrum, ossiculoplasty - prosthetics of the auditory ossicles). It is much worse if the hearing impairment develops according to the sensorineural type - it makes no sense to talk about hearing restoration in this case, we can only talk about hearing aids.

By the time of occurrence, hearing loss is:

• congenital (including genetically determined);
• acquired.

By degree of deafness:

• I - decrease in sound perception by 26 - 40 dB;
• II - by 41 - 55 dB;
• III - 56 - 70 dB;
• IV - 71 - 90 dB.

If a person does not hear sounds with a loudness of 91 or more dB (cry at the ear), we are talking about complete deafness.

Causes of deafness

1. hereditary deafness. It is most often passed down from generation to generation, but it can also occur for the first time if a recessive deafness gene is inherited.
2. congenital deafness. Appears due to exposure to pathogenic factors during fetal development or in the first minutes of life.
   • fetal hypoxia;
   • birth injury;
   • stop breathing;
   • birth weight less than 2500 g.
   • transferred pregnant infections (rubella, cytomegalovirus, measles, herpes, toxoplasmosis);
   • taking ototoxic (hearing) drugs during pregnancy;
   • severe neonatal jaundice causing toxic damage to the auditory nerve.
3. Acquired hearing loss:
   • previous bacterial meningitis or meningoencephalitis;
   • severe measles or mumps in young children;
   • chronic otitis;
   • injuries and accidents;
   • use of ototoxic antibiotics, diuretics, or chemotherapy;
   • exposure to professional factors (work in a noisy room);
   • excessive volume of frequently used headphones, regular visits to bars, nightclubs and similar events with loud soundtracks;
   • age-related changes (presbycusis).

genetic deafness

Hereditary deafness can be:

• syndromic - that is, associated with a complex of genetic disorders, where deafness is only one of their factors (approximately 30% of cases);
  For example, in Pendred syndrome, hereditary deafness is combined with an enlarged thyroid gland, in Jervell-Nielsen syndrome, with arrhythmia caused by a violation of cardiac conduction.
• isolated (70% of cases).

Genetically determined deafness occurs with a frequency of 1:1500 newborns. Hearing impairment can occur both at the level of sound conduction and at the level of sound perception. Now more than 300 syndromes are known, among the signs of which are hearing loss and more than 140 genetic regions (loci) that cause isolated deafness.

In the European population, almost half of the cases of non-syndromic deafness are caused by the pathology of the GJB2 gene, which regulates the functioning of the ion channels of the inner ear. It is the movement of ions through the membrane of the cochlea that creates a potential difference that forms a nerve impulse. To date, more than 300 variants of mutations of this gene have been identified, which can be inherited in different ways:

1. Autosomal recessive type of inheritance (75 - 80%). An altered gene - a recessive sign of deafness - can be secretly passed on from generation to generation until it “meets” the same one inherited from the second parent. In this case, a deaf child is born to a healthy couple.
2. Autosomal dominant type (15 - 20%). For the occurrence of deafness, one mutated gene inherited from a deaf parent is enough.

In Russia, every 46 people are carriers of the GJB2 gene mutation.

Since the causes of hereditary deafness are not limited to changes in this gene, type 3 inheritance is also possible - associated with the X chromosome. In this case, deaf men are born in the family, and women remain healthy carriers of the defective gene.

Another problem is that hereditary deafness does not always manifest itself from birth. It also happens that hearing impairment develops with age, as pathological products of impaired metabolism accumulate.

Hearing disorders in children

While hearing loss in adults leads to disability and communication problems, deafness in children causes mental retardation: the developing brain lacks information.

According to WHO, 40% of hearing loss and deafness in children have hereditary causes.

60% of hearing loss in children could be prevented:

• 31% are due to infectious pathology: measles, meningitis, rubella, cytomegalovirus. This group also includes patients with chronic otitis media.
• 17% are caused by violations of the normal course of pregnancy and childbirth: these are very premature babies, patients who have undergone asphyxia at birth and have suffered from neonatal jaundice;
• 4% suffered due to the use of drugs that are toxic to the hearing aid;
• 8% - other causes of deafness.

In order for hearing loss not to interfere with the normal development of the child, it is necessary to start treatment for deafness as early as possible. And for this it is important to understand that the baby does not hear. As practice shows, parents usually notice such things too late - and a hearing impairment in a child is first detected during an examination before entering kindergarten.

How to identify deafness in a child:

• the baby does not respond to sharp sounds: rattles out of sight, claps, the sound of falling objects, etc.
• a child by 1.5 years does not respond to his own name;
• if you call the baby from behind, he will not turn around (many parents interpret this as "stubbornness" or "inattention");
• schoolchildren have problems with their studies, with answers in the lessons - the child does not hear the teacher sufficiently to assimilate new knowledge (which is also often interpreted as "absent-mindedness" or "restlessness").

According to doctors, 30% of underachieving schoolchildren have unilateral hearing loss. It occurs 10 times more often among repeaters than among other children.

Since parents often turn on psychological defense mechanisms that allow them not to notice the child's deafness, it is very important to complete all the studies on time. Now in Russia there is a screening program (early detection) of hearing loss in a child.

Previously, to screen for changes in hearing in an infant, the so-called "pea test" was used: it was necessary to shake a jar filled with dry peas out of the child's field of vision. At the same time, the sound turned out to be quite loud: 80 - 90 dB. A normal child older than 2 weeks (namely, by this age a reaction to sound is formed) with a sharp noise shudders, blinks, opens his eyes wide, tries to turn to the source of the sound, or, conversely, freezes, listening. Accordingly, the absence of such a reaction became a sign of deafness in the infant.

Now, for a quick examination, special devices are used that produce sounds (clicks) of different volumes and record an acoustic response - extremely weak sound vibrations generated by the cochlea. This method is called delayed evoked otoacoustic emission recording. It is absolutely safe and does not require a long procedure. If the baby is sleeping, the entire examination can be completed in 2 minutes.

According to modern clinical recommendations, all children should undergo such an examination while still in the maternity hospital - up to 3 days after birth. If the results show a deviation from the norm, the child should be re-examined before 3 months of age, and if hearing problems are confirmed, then therapy should be started by 6 months of life.

Treatment consists either in the selection of a hearing aid (and hearing aids must be bilateral), or in cochlear implantation, an operation in which electrodes are implanted directly into the cochlea, amplifying the sound signal.

Both after hearing aids and after cochlear implantation, the child will need classes with a deaf and speech therapist in order to learn to perceive and distinguish sounds and master independent speech.

Acute sensorineural hearing loss

Despite the fact that a sharp decrease in hearing can be caused by the ingress of a foreign body, most often a hearing loss that develops in a few hours is the result of damage to the auditory analyzer, that is, a special case. Patients usually describe their condition as “mute off”, “telephone wire broken”. Causes that can cause sudden deafness:

• exposure to infectious agents: viruses (measles, mumps, herpes, influenza, encephalitis) or bacteria (diphtheria, meningitis, typhoid);
• circulatory disorders: hypertension, ischemic heart disease, cerebrovascular accident;
• tumor;
• trauma (craniocerebral, barotrauma);
• ototoxic effect of drugs.

But it is possible to accurately determine the cause only in 10-15% of cases; in all other patients, hearing loss is called idiopathic (most often implying the vascular nature of the pathology).

Often hearing loss is accompanied by tinnitus, dizziness.

In 30-65% of these patients, deafness resolves on its own within a week.

However, don't wait for the problem to resolve itself. Recommended hospitalization in a specialized hospital and active therapy:

• glucocorticoids, optimally - introduction into the cavity of the middle ear, if this is not possible - intravenously;
• drugs that improve rheological properties, "fluidity" of blood, and microcirculation (pentoxifylline, vinpocetine);
• antioxidants and agents that improve resistance to hypoxia: lack of oxygen in tissues in violation of blood flow (ethylmethylhydroxypyridine succinate, vitamins A, E).
• hyperbaric oxygenation.

All these drugs are designed to reduce inflammation (including that caused by tissue damage during ischemia) and restore normal blood flow in the inner ear.

Paradoxically, although such a scheme is indicated in the clinical guidelines for the treatment of sensorineural hearing loss (including foreign guidelines), the same recommendations stipulate that the schemes have been developed empirically (based on the experience of observations and treatment) and there is still not enough convincing evidence their clinical effectiveness. Studies that meet the requirements of modern evidence-based medicine are still ongoing and the results have not yet been published.

Sensorineural (neurosensory) hearing loss

With this pathology, deafness is caused by a lesion in the sound-perceiving section of the auditory analyzer, starting from the receptors of the inner ear and ending with the cortex of the temporal part of the brain. Simply put, under the influence of various factors, nerve cells that perceive and analyze sounds die, which leads to deafness.

Pathology can be congenital (it was described in detail above) and acquired.

Factors provoking acquired sensorineural hearing loss:

• long-term increased noise level (prof. harmfulness);
• age-related changes (presbycusis);
• chronic vascular pathology;
• chronic purulent otitis media, labyrinthitis, intracranial complications of ENT diseases (meningitis, abscesses);
• chronic intoxication, including at work;
• blood clotting disorders (the formation of microthrombi and, as a result, a violation of the microcirculation of the inner ear).

With sensorineural hearing loss, the perception of high-frequency sounds and the ability to distinguish whispers are primarily reduced, while at low frequencies, hearing can remain normal for quite a long time. Bone and air conduction are reduced equally, the audiogram clearly shows a descending curve, showing hearing loss primarily at high frequencies.

The mechanisms of development of sensorineural deafness are not fully understood, but in general, circulatory disorders are considered to be the main factor. Accordingly, the treatment is primarily aimed at restoring microcirculation:

• correction of background diseases (normalization of blood pressure, cholesterol levels, treatment of infection, etc.);
• nootropics (piracetam, cerebrolysin, cavinton),
• drugs that reduce blood clotting (acetylsalicylic acid);
• B vitamins, antioxidants.

Treatment is carried out with maintenance courses twice a year. As with acute sensorineural hearing loss, the physician decides how to treat the deafness based on their own experience and expert advice. Up-to-date evidence of the effectiveness of a particular scheme does not exist.

Over time, patients most often require hearing aids - the fitting of a hearing aid.

Conductive hearing loss

With disorders at this level, complete deafness is rare, but hearing loss can be very significant. This disrupts the conduction of sound through the tympanic membrane - the auditory ossicles - the inner ear.

Possible reasons:

• blockage of the external auditory canal (sulfur plug, otitis externa, foreign body);
• impaired mobility and function of the tympanic membrane: perforation (due to inflammation or injury), tympanosclerosis (deafness after chronic inflammation), retraction of the membrane in acute tubo-otitis, when pressure in the middle ear decreases due to impaired function of the auditory tube.
• violation of the mobility of the auditory ossicles: serous or purulent effusion in the tympanic cavity with otitis media, cholesteatoma (pathological formation of desquamated epithelium caused by chronic inflammation), caries of the auditory ossicles (again, the result of chronic otitis media), otosclerosis.

Most often, conductive deafness is in one ear (one-sided). A characteristic sign of conductive hearing loss is that one's own voice is heard in the diseased ear "like in a barrel." This is due to the fact that bone conduction remains normal, while air conduction decreases, that is, the affected ear really hears the voice only “from the inside”. The same is confirmed by tuning fork tests - when a tuning fork attached to the mastoid process (behind the ear) is heard better than just brought to the ear. An audiogram, if done (most often the diagnosis is made earlier, based on anamnesis and data from a direct examination) also shows a decrease in air conduction with normal bone.

Treatment will depend on the cause of the hearing loss:

• in the presence of a foreign body or sulfur plug- removal to restore the patency of the ear canal;
• otitis externa - locally anti-inflammatory drops (usually combining antibiotics, antifungal agents and glucocorticoids: Anauran, Candibiotic, Otofa, Polydex, etc.) or ointments; when inflammation decreases, swelling decreases and hearing is restored;
• tubootitis (eustachitis) and serous otitis media- restoration of the patency of the auditory tube: vasoconstrictor drops in the nose to relieve swelling from the mouth of the auditory tube, physiotherapy (blowing), in children - removal of adenoids; as the functions of the auditory tube are restored, the pressure on both sides of the tympanic membrane equalizes, restoring its mobility.
• purulent inflammation requires the use of antibiotics both locally and systemically (in tablets), if there is a perforation of the membrane, it is advisable to conduct a course of washing the tympanic cavity (does a doctor);
• chronic purulent process may require surgery;
• otosclerosis is treated only promptly: the affected auditory ossicles are replaced with prostheses.

In general, with conductive hearing loss, the prognosis is favorable, if treatment is started on time, hearing is restored in full.

Etiology and incidence of congenital deafness. Approximately 1 in 500-1000 newborns have clinically significant congenital hearing loss due to defects in the conduction apparatus of the middle ear or neurological disorders. It is believed that approximately a third or even half of congenital deafness has a genetic etiology.

Among hereditary forms about three-quarters are non-syndromic, characterized by isolated deafness; one quarter - syndromic deafness, i.e. associated with other manifestations.

Among the inherited forms of non-syndromic hearing loss one of the common causes is mutations in the GJB2 gene. These mutations cause a form of hearing loss called DFNB1 (MIM No. 220290), which is responsible for half of congenital non-syndromic autosomal recessive hearing loss, as well as a form of DFNA3 (MM No. 601544), a rare form of progressive autosomal dominant deafness with early childhood onset.

The 35delG mutation accounts for approximately two-thirds of the known autosomal recessive mutations in the GJB2 gene in Caucasian populations, but not in other ethnic groups. For example, among the Chinese, the predominant mutation in GJB2 causing DFNB1 is 235delC.

The pathogenesis of congenital deafness

GJB2 gene encodes connexin-26, a member of the family of proteins that form gap-like junctions (nexuses). Gap junctions create pores between cells that allow the exchange of ions and the passage of electrical signals between cells.

Connexin-26 is significantly expressed in the cochlea - the internal auditory organ that converts acoustic waves into electrical impulses. The inability to form functioning nexuses leads to a decrease or loss of cochlear function, but does not affect the vestibular and auditory nerve system.

Phenotype and development of congenital deafness

autosomal recessive due to mutations in the GJB2 gene, it is congenital and can be mild to severe. If hearing loss is detected early and the child receives appropriate treatment and education in speech or the alphabet for the deaf, the cognitive deficit is not a component of the disease.

Autosomal dominant deafness also occurs due to mutations in the GJB2 gene. It is characterized by onset in early childhood, manifested by high-frequency sensorineural hearing loss that progresses from moderate to severe. Like the autosomal recessive form, it is also not associated with a cognitive deficit.

Features of the phenotypic manifestations of congenital deafness:
Congenital deafness in the recessive form
Progressive childhood deafness in the dominant form

Treatment of congenital deafness

Diagnosis of congenital deafness usually given at newborn screening. Screening is performed either by measuring otoacoustic emission, which detects sounds produced by the internal vibrations of a normal cochlea, or by computerized auditory evoked potential audiometry, which detects electrical signals in the brain generated in response to sound.

With the introduction of total screening newborns, the average age of diagnosis has dropped to 3–6 months, allowing for early use of hearing aids and other forms of therapy. Children who start therapy before 6 months of age have better outcomes. speech development compared with children who started treatment at an older age.

As soon as it is revealed hearing loss, the child should be referred for early intervention, regardless of the etiology of the deafness. By consulting with professionals, such as audiologists, cochlear implant teams, otolaryngologists, and speech therapists, about the advantages and disadvantages of different methods, it is easier for parents to choose the ones that are best for their family.

Age-appropriate intensive training in the ABC of the deaf and speech with hearing aids should start as early as possible. Parents can be offered early cochlear implantation - the installation of a device that bypasses a non-functioning cochlea. The use of a cochlear implant up to 3 years of age results in better speech and language skills than if implanted at an older age.

During the period newborns It can be difficult to distinguish clinically between some forms of syndromic and nonsyndromic deafness because some syndromic features, such as goiter in Pendred's syndrome or retinitis pigmentosa in Usher's syndrome, may present in late childhood or adolescence.

However, the final diagnosis important for prognosis, treatment and counseling; therefore, the key to diagnosis is a thorough family history and DNA analysis of mutations in the GJB2 gene and several other genes. Importantly, the differential diagnosis of the various forms of non-syndromic deafness is often critical to the selection of appropriate treatment.

Risk of inheriting congenital deafness

form of severe congenital deafness caused by loss-of-function mutations in the GJB2 (DFNB1) gene is inherited in a typical autosomal recessive manner. Healthy parents are carriers of one normal and one mutant gene. Two parents who are heterozygous carriers have a one in four chance of having a child with congenital deafness in each pregnancy. Prenatal diagnosis is available by direct detection of mutations in DNA.

In families with non-syndromic progressive hearing loss with onset in childhood, caused by mutations in the GJB2 (DFNA3) gene, inheritance is autosomal dominant, and the risk for an affected parent to have a deaf child is one-half in each pregnancy.

An example of congenital deafness. Married couple referred to a genetics clinic by an ENT doctor because their 6-week-old son was diagnosed with congenital hearing loss. The child was initially identified on a standard neonatal hearing screening (evoked otoacoustic emission test) and then checked with a formal brainstem response to an auditory stimulus showing mild hearing loss.

The child was born from healthy parents European origin. Neither parent has a personal or family history of early hearing loss, although the father believes his aunt had some hearing loss in her old age. The child was born full-term from an uncomplicated pregnancy.

When examining dysmorphic signs not detected. No evidence of craniofacial malformations affecting the inner or outer ear was found. The eardrums were visible and unchanged. Ophthalmoscopic examination is limited due to the age of the patient, but no abnormalities were found. There is no enlargement of the thyroid gland. The skin is normal.

Audiometry revealed a bilateral decrease hearing by 60 decibels in the medium and high frequency range (500-2000 Hz and >2000 Hz). The electrocardiogram is normal. CT of the petrosal and cochlea showed normal findings, with no malformations or dilated canals.

Deafness is the complete loss of the ability to perceive speech. With deafness, the remnants of hearing are preserved, which allow a person to perceive rather loud sounds (beep, whistle) or familiar words pronounced loudly next to the ear. Intelligible perception of speech in the presence of deafness is impossible.

Allocate deafness congenital and acquired.

Causes of deafness can be:

• hereditary factor;
• Features of the course of pregnancy and childbirth;
• Infectious diseases;
• Diseases of the middle ear.

Treatment of deafness consists in hearing aids using various hardware.

Causes of deafness

Congenital deafness can be caused by heredity, viral diseases of the mother (measles, rubella, influenza), her intake of alcohol, certain drugs such as kanamycin, quinine, monomycin in the first trimester of pregnancy.

The following factors can be the causes of acquired deafness:

• Consequences of chronic and acute otitis media;
• Consequences of meningitis;
• Consequences of infectious diseases (mumps, scarlet fever, measles, influenza, diphtheria);
• Otosclerosis;
• Noise injury;
• Carrying out caisson works with non-compliance with decompression rules;
• Trauma of the temporal bone;
• Organic lesions of the brain;
• Ototoxic effects of drugs (usually aminoglycoside antibiotics). The risk of developing deafness increases when these drugs are taken in combination with diuretics;
• Age-related changes in the organ of hearing;
• Stress;
• Vascular changes in the inner ear (with hypertension, angioedema, atherosclerosis);
• Syphilis;
• Malignant tumors of the middle ear.

Both types of deafness are the result of irreversible changes that have occurred in the nerve pathways, the receptor, the nuclei of the cerebral cortex (except for psychogenic deafness).

Deafness classification

According to the nature of the violation of sound perception and sound conduction, sound-conducting, sound-perceiving and mixed forms of deafness are distinguished.

With conductive deafness, the following are affected: the tympanic membrane, outer ear, auditory ossicles, labyrinth windows, endolymph, perilymph, basilar plate.

With a sound-perceiving (perceptual) form of deafness, the following are affected: the spiral organ and the cochlear node, nerve fibers, central pathways, anterior and posterior cochlear nuclei. This type of deafness is also called "cochlear neuritis".

Sound-perceiving deafness is divided into: peripheral (cochlear, labyrinthine) and central (cortical or retrolabyrinthine). Most often in clinical practice, cochlear deafness occurs, because, despite the fact that the cochlea is located quite deep in a dense bone pyramid, it has a high level of sensitivity to many internal and external factors(the action of toxins, circulatory disorders, noise trauma, viral infection).

A mixed form of deafness is associated with damage to both the sound-conducting and sound-perceiving systems.

Diagnosis of deafness

Diagnosis of deafness in adult patients is based on their complaints and the results of audiometry, which allows you to accurately determine whether the patient has residual hearing.

Diagnosis problems usually arise when recognizing the presence or absence of hearing in young children. For these purposes, various sounding toys are used, some orienting and conditioned reflexes of newborns, registration of auditory evoked potentials using computer audiometers.

Deafness treatment

Hearing improvement is possible only in some cases of acute sound-perceiving deafness with its early treatment. In the case of late treatment of deafness, it is almost never possible to restore hearing.

If there is a developing perceptual form of deafness, then the goal of its treatment is to stabilize hearing and reduce tinnitus, which debilitates the patient.

The use of the sound-perceiving form of medications in the treatment of deafness is not effective, since there are no clear ideas about the changes that occur in nerve cells. As a rule, with "cochlear neuritis" only vitamins A, E, B 1, B 12, B 6, PP are prescribed.

With senile and occupational deafness, the effect is the use of vitamins A and E, sex hormones; ATP, cocarboxylase, nicotinic acid, prozerin, galanthamine.

In the treatment of sudden onset deafness, along with vitamins, antispasmodics, vasodilators or anticoagulants (depending on the type of vascular disorders), as well as dehydration, sedative, desensitizing drugs are used.

In order to eliminate tinnitus, patients undergo a vagosympathetic blockade or plexotomy of the tympanic cavity.

In addition to pathogenetic, symptomatic treatment of deafness is also prescribed, which involves performing an operation to improve hearing, hearing correction with a hearing aid, or artificial prosthetics of middle ear sections. Hearing-improving surgery is most often used for deafness caused by otosclerosis and adhesive otitis media.

The purpose of surgical intervention may be the prosthesis of the incus, the restoration of the patency of the auditory tube, the plastic of the tympanic membrane, the creation of a small tympanic cavity.

Currently, the electrode method of hearing aids is also used, which consists in implanting electrodes into the inner ear - they transmit electrical signals to the auditory nerve with the help of a microphone device.

An important point in the treatment of deafness is teaching the patient to understand speech through the lips. Hearing-impaired children are sent to special institutions where, in addition to general education, they receive skills in the use of hearing equipment and understanding speech from the lips.

Thus, deafness is a disease that significantly reduces the quality of life of the patient, is not always treatable and requires long-term adaptation to new conditions of sound perception. Therefore, in order to prevent the development of deafness, you should take your health and the health of your future children seriously, taking the necessary preventive measures.

Of great importance in the prevention of congenital deafness is protection from viral infections, the prohibition of taking certain drugs and alcohol during pregnancy. Prevention of acquired deafness consists in the early detection of hearing loss, timely treatment of diseases that can lead to hearing impairment, sanitation of the nose and nasopharynx, rational use of drugs with ototoxic effects. For the prevention of perceptual deafness in the case of the development of chronic suppurative otitis media, the middle ear is sanitized, measures aimed at preventing exacerbations of the disease and its complications, and periodic stimulating therapy is also recommended.