[Clinical protocol: audiological assessment of infants in Russian Federation. Part II]. / Protokol audiologicheskogo obsledovaniya detei pervogo goda zhizni v Rossiiskoi Federatsii. Chast' II.

This is the second part of the previously published clinical protocol of audiological assessment in infants. The goal of the protocol is unification approaches to audiological diagnosis of the infants. The following sections were included in the second part of the protocol: behavioral testing in infants, testing sequence, duration of the examination and necessity in follow-up, hearing assessment in special cases (premature children, children with congenital infections, after meningitis, with external ear abnormalities, single-sided deafness, with hydrocephalus and shunts, with auditory neuropathy spectrum disorder, with mild hearing loss and otitis media with effusion), medical report.

[Clinical protocol: audiological assessment of infants in Russian Federation. Part I]. / Protokol audiologicheskogo obsledovaniya detei pervogo goda zhizni v Rossiiskoi Federatsii. Chast' I.

The clinical protocol of audiological assessment in infants was prepared by the workgroup of Russian pediatric audiologists from different regions. The goal of the protocol is unification approaches to audiological diagnosis of the infants. The protocol has been developed according the evidence based medicine principles, by reviewing current scientific publications on the topic and taking into account the order of providing medical services and other clinical practice guidelines. When direct evidence was not available, both indirect evidence and consensus practice were considered in making recommendations. This guideline is not intended to serve as a standard to dictate precisely how the child should be diagnosed. This guideline is meant to provide the evidence base from which the clinician can make individualized decisions for each patient. The first part of the protocol covers following sections: equipment, staff requirements, timing of the diagnostics, case history and risk factors, preparing the child for the appointment, sedation and general anesthesia, otoscopy, tympanometry and acoustic reflex, otoacoustic emissions, skin preparing, electrode montage, choosing the stimulators, auditory brainstem responses on broadband and narrow-band stimuli, on bone conducted stimuli, auditory steady-state responses, masking, combined correction factors.

Early audiological phenotype in patients with mutations in the USH2A gene.

INTRODUCTION: Nowadays, due to universal newborn hearing screening (UNHS) the number of children with mild-to-moderate hearing loss diagnosed in the first year of life has increased significantly. Aside from that, identification of the genetic cause improves the genetic counselling of the families and allows to reveal possible comorbidities which may need a special approach. OBJECTIVE: To present the characteristics of the early audiologic phenotype in hearing impaired patients with biallelic mutations in the USH2A gene based on systematic analysis of the audiological data. PATIENTS AND METHODS: 13 patients with mutations in the USH2A gene underwent audiological examination. Most of them were found among a large group of infants with bilateral nonsyndromic sensorineural hearing loss (SNHL) examined under 12 months. RESULTS: Eight out of eleven children failed UNHS and were initially diagnosed as having bilateral nonsyndromic SNHL. Seven children underwent an audiological assessment before the age of 9 months. The earliest audiological examination was carried out at 1 and 3 months. The children with pathogenic variants in the USH2A gene in our examined group were identified in the first year of life via UNHS. The hearing threshold levels (HTL) for the USH2A group are compactly distributed between 51.25 dB and 66.25 dB, quartiles are 54 dB and 63.4 dB, with a median of 60 dB. The audiological profile of patients with biallelic USH2A mutations differs from audiograms of patients who had STRC-related hearing loss. We have not found any significant elevation in hearing thresholds in the first decade of life. We also estimated the prevalence of the USH2A and STRC mutations among GJB2-negative infants with bilateral nonsyndromic SNHL examined under 12 months, and it was 7.5% and 16.1%, respectively. CONCLUSION: According to our results, the early hearing phenotype in pediatric patients with biallelic mutations in the USH2A- gene is characterized by nonsyndromic mild-to-moderate SNHL in the first decade of life. Our results indicate that the presence of mutations in the USH2A or STRC genes can be expected in a child with congenital mild-to-moderate nonsyndromic SNHL. This information is of practical importance for parents, as they have to know the prognosis of hearing loss for their child from the very beginning. Post-screening follow-up should include adequate clinical, genetic, and social support for children and their parents.

[Ethical analysis of work environment in audiology]. / Analiz eticheskikh aspektov trudovoi deyatel'nosti vrachei-surdologov-otorinolaringologov i vrachei-otorinolaringologov.

The issues of medical ethics concern not only the doctor-patient relationship, but also the ethical aspects of the organization of the labor activity of medical specialists. Identifying and resolving ethical dilemmas can serve as the basis for preventing occupational stress and burnout and improving the effectiveness of medical care in the field of audiology. OBJECTIVE: Ethical analysis of work environment in audiology. MATERIAL AND METHODS: A 14-question questionnaire developed on the basis of demand-control and effort-reward models, an online survey was conducted using the Google Forms service among 111 specialists (43 audiologists, 13 otorhinolaryngologists, and 55 doctors combining work in both specialties).Results and discussion. The differences were revealed on the scales Effort and Reward depending on the specialty and clinic (public or private). The greatest effort was found among doctors combining both specialties, the least - among doctors of private clinics. 58% of the respondents consider the wages to be inadequate to the expended efforts. At the same time, a high respect level among patients, management and colleagues helps to compensate for the identified efforts. CONCLUSION: The analysis made it possible to identify ethical dilemmas in the work of audiologists for effective planning of specialty development.

Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population.

Congenital sensorineural hearing loss is related to mutations in numerous genes encoding the structures of the inner ear in majority of the cases. Mutations in GJB2 gene are the most frequently identified causes of congenital nonsyndromal hearing loss. GJB2 gene testing became a routine clinical tool. For GJB2-negative patients new genetic approaches including methods based on new generation sequencing give a chance to identify mutations in other genes. The frequent reason of mild-to-moderate hearing loss such as the deletions/mutations of the gene STRC encoding stereocilin protein were recognized (OMIM: 606440). OBJECTIVES: To evaluate the audiological features in hearing impaired patients with deletions and point mutations in the STRC gene. PATIENTS AND METHODS: The group of 28 patients from 21 unrelated families with pathological mutations in the STRC gene underwent audiological examination. The description and analysis of the results of full audiological examination was provided. RESULTS: All patients initially had bilateral nonsyndromal sensorineural hearing loss. Among 11 homozygotes of large deletion harboring STRC to CATSPER2 genes were 7 male individuals indicating the presence of male infertility syndrome. In general, 7 children failed audiological screening and 4 children underwent audiological assessment in the age of 3 and 6 months. The most frequently hearing thresholds were registered between 35 and 55 dB that corresponds to mild-to-moderate hearing impairment. The average age of diagnostics was 7.9 years (ranged from 3 months to 45 years). In the majority of patients the audiological profiles were flat or descending with elevation of thresholds at middle and high frequencies and relatively preserved thresholds at low frequencies. Hearing thresholds are symmetric and stable with age. CONCLUSION: STRC-linked hearing loss is congenital, of mild and moderate severity. Special clinical and genetic approach for children who failed newborn hearing screening with mild-to-moderate hearing loss is necessary.

[Epidemiology of hearing loss in children of the first year of life]. / Épidemiologiia narushenii slukha sredi detei 1-go goda zhizni.

The aim of this study was the investigation of the epidemiology of permanent hearing impairment in the children of first year of life in the Russian Federation after the implementation of the newborn universal hearing screening program. The prevalence of hearing loss in children in the first year of life was estimated at 2.5 per 1,000 based on the official statistical data and reports of hearing rehabilitation centres in 2016. A cohort of 405 children born in 2012 was examined at the age from 0 to 4 years of life. Among them 276 children were diagnosed with permanent congenital and prelingual hearing loss. 88% of the cases were bilateral, sensorineural hearing loss confirmed in 84% of the cases. The genetic cause of hearing loss was revealed in 58% of the patients assessed for the presence of GJB2 gene mutations. In preterm infants, the permanent hearing loss was detected in 70% of the cases. The comprehensive audiological assessment before 3 months of life was conducted only in 32% of the children; this finding is not consistent with the international newborn hearing screening recommendations. Only 70% of the cases of congenital and preverbal hearing loss were diagnosed during the first year of life.

[The Russian and international experience with the implementation of the programs of universal audiological screening of the newborn infants].

The problem of diagnostics of congenital hearing impairment has acquired special importance in the light of new possibilities for the early rehabilitation of the patients presenting with this condition. The implementation of the programs of universal audiological screening into the clinical practice of Russia and many other countries made it possible to significantly reducethe time necessary to confirm congenital impairment of hearing and begin the rehabilitative treatment. The present paper was designed to analyze the international experience with the implementation of the programs of universal audiological screening of the newborn infants as exemplified by such countries as Great Britain, USA, Germany, and Poland. The main indicators of the quality and the efficiency of such programs are considered taking into account the results of the epidemiological studies on the prevalence of congenital hearing impairment. A total of 1.8 mln newborn infants were examined in Russia during 2013. The first stage of screening involved 96.7% of the children, and only 2.9% of them remained uncovered by the examination. As many as 5,659 children were found to present with the congenital loss of hearing,with the prevalence of this condition being 3 per 1.000 newborn infants and the prevalence of deafness 0.6 per 1.000. The principal problem to be resolved for the organization of the management of these patients, both in Russia and other countries, remains the enhancement of the availability of comprehensive diagnostic examination and the timelyreferral of the patients to such examination (if appropriate based on the results of the screening). The successful solution of this problem requires personalized recording of the screening data with the use of the commonly accepted medical information systems.

[The results of cochlear implantation in the patient with hereditary and non-hereditary hearing loss]. / Rezul'taty kokhlearnoi implantatsii u patsientov s nasledstvennymi i nenasledstvennymi formami tugoukhosti.

The objective of the present study was to evaluate the effectiveness of rehabilitation of the patients after cochlear implantation in the early and late periods after operation taking into consideration the etiology of congenital deafness. The comprehensive clinico-audiological examination performed during the period from 2010 to 2015 involved 246 children who had undergone cochlear implantation (CI). All children were operated at the National Research Center for Audiology and Hearing Rehabilitation in the period from 2003 to 2013. 83 (56%) patients were aged 1 to 3 years at the time of surgery. Their age varied from 3 to 18 years when they underwent the clinico-audiological examination. Thus, the study is based on the experience with cochlear implantation varying from 3 to 12 years. The genetic analysis revealed mutations in the GJB2 gene in 49% of the children, in agreement with the data of earlier studies. 85% of all the children with GJB2 deafness surgically treated at the age under 4 years attend ordinary institutions of learning. Within 24 months after the onset of the observations the majority of the children with hereditary deafness (63%) were referred to the groups with good and excellent results of the rehabilitation and only 6 (12%) patients presented with unsatisfactory results. It was shown that the acquired causes of the loss of hearing including severe prenatal pathology have a negative influence on the long-term outcomes of rehabilitation. The results of the genetic analysis for the elucidation of the cause of impaired hearing can be employed as a prognostic criteria not only for the prediction but also for the guarantee of the success of cochlear implantation provided the rehabilitative process was initiated in a proper time.

[The universal audiological screening of newborn infants: achievements and challenges].

The objective of the present study was to estimate the effectiveness of universal audiological screening of newborn infants in Russia based on the results of this procedure obtained in 2011-2012 by the analysis of the activities of surdological centres in 15 regions of the country. It was shown, that the main indicators of the effectiveness of the screening are the technical equipment of maternity houses, newborn coverage at the first stage of screening, and its continuity. The study revealed 3.14% of the infants who failed to be involved in the first stage of screening. Hearing impairment was diagnosed in two of each 1,000 newborn infants at the second stage of screening, the frequency of severe forms of hearing impairment was estimated as three cases per 10,000 infants. The disadvantages of the current system of identification of newborn infants suffering congenital loss of hearing are discussed. The importance of the improvement of data collection methods is emphasized.