Epidemiology of hearing loss in children of the first year of life

Чибисова, С. С.; Маркова, Т Г; Alekseeva, N. N.; Yasinskaya, A. A.; Tsygankova, E R; Bliznetz, E. A.; Polyakov, A. V.; Таварткиладзе, Г. А.

doi:10.17116/otorino201883437

Cited by 17 publications

(10 citation statements)

References 19 publications

(20 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Pre-lingual hearing impairment was common in our study population which agrees with other findings (Chibisova et al, 2018). Majority of pre-lingual HI are congenital and are usually caused by genetic factors (Wonkam et al, 2013; Behlouli et al, 2016).…”

Section: Discussionsupporting

confidence: 93%

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

et al. 2019

View full text Add to dashboard Cite

Our study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with non-syndromic childhood hearing impairment (HI) as well as the environmental causes of HI in Ghana. Medical reports of 1,104 students attending schools for the deaf were analyzed. Families segregating HI, as well as isolated cases of HI of putative genetic origin were recruited. DNA was extracted from peripheral blood followed by Sanger sequencing of the entire coding region of GJB2. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of GJB6-D3S1830 deletion. Ninetyseven families segregating HI were identified, with 235 affected individuals; and a total of 166 isolated cases of putative genetic causes, were sampled from 11 schools for the deaf in Ghana. The environmental factors, particularly meningitis, remain a major cause of HI impairment in Ghana. The male/female ratio was 1.49. Only 59.6% of the patients had their first comprehensive HI test between 6 to 11 years of age. Nearly all the participants had sensorineural HI (99.5%; n = 639). The majority had pre-lingual HI (68.3%, n = 754), of which 92.8% were congenital. Pedigree analysis suggested autosomal recessive inheritance in 96.9% of the familial cases. GJB2-R143W mutation, previously reported as founder a mutation in Ghana accounted for 25.9% (21/81) in the homozygous state in familial cases, and in 7.9% (11/140) of non-familial non-syndromic congenital HI cases, of putative genetic origin. In a control population without HI, we found a prevalent of GJB2-R143W carriers of 1.4% (2/145), in the heterozygous state. No GJB6-D3S1830 deletion was identified in any of the HI patients. GJB2-R143W mutation accounted for over a quarter of familial non-syndromic HI in Ghana and should be investigated in clinical practice. The large connexin 30 gene deletion (GJB6-D3S1830 deletion) does not account for of congenital non-syndromic HI in Ghana. There is a need to employ next generation sequencing approaches and functional genomics studies to identify the other genes involved in most families and isolated cases of HI in Ghana.

show abstract

Section: Discussionsupporting

confidence: 93%

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Актуальной проблемой остаются низкая преемственность этапов аудиологического скрининга и отсутствие контроля сроков направления на подтверждающую диагностику. По результатам анализа медицинской документации обратившихся для полного аудиологического исследования, второй этап скрининга был проведен до 3 мес у 32% детей, до 6 мес -у 52% [15]. Все это приводит к тому, что количество детей с нарушением слуха, которые получают необходимую им помощь в соответствии со стандартом «1-3-6», очень ограниченно [16].…”

Section: обоснованиеunclassified

“…Некоторые результаты данного исследования были опубликованы ранее в работах и освещали организационные возможности контроля качества программы универсального аудиологического скрининга новорожденных и особенности эпидемиологии врожденных и доречевых нарушений слуха среди детей раннего возраста [15,16,22].…”

Section: методыunclassified

Recommendations for All-Round Newborns and Infants Hearing Screening in Russian Federation

et al. 2021

Self Cite

View full text Add to dashboard Cite

Background. Nowadays there is a need to revise the Russian list of risk factors of hearing loss and deafness based on their study according to the evidence-based medicine and the analysis of the audiology service capabilities. Moreover, audiologic screening system for newborns and infants should be revised in every region to identify the reasons of mismatch with international standards and to find ways of its efficacy improvement. Objective. The aim of the study is to increase the efficacy of Russian program of all-round newborns and infants hearing screening. Methods. This study consisted of two parts. 1) The first stage of audiological screening audit on the example of 78 medical institutions in Saint-Petersburg. The availability and correct function of hearing research equipment, specialists’ qualifications, study technique and conditions, documents and results transmitting accuracy were estimated. 2) Updating the list of risk factors of hearing loss. The prevalence rate of these factors in Russian population according to the literature and official statistics was studied. Evaluation of predictive significance of risk factors was based on retrospective data in the cohort of 393 children born in 2012 (280 with hearing loss, 113 healthy) examined in National Research Centre for Audiology and Hearing Rehabilitation at the age of 0–4 years. Results. The first stage of audiological screening audit has shown that only 14% of included institutions fully meet the criteria of its effective implementation. The following problems were revealed: purchase and renewal of equipment, its timely adjustment, ensuring the continuity of screening stages, specialists training, compliance with methodology and study conditions, results documentation. We were able to increase by 8.5% (close to targeted indicator) the coverage of newborns with first stage of audiological screening as well as to increase the rate of children at the diagnostic stage from 33% to 51%, due to the results of this audit and methodological assistance to the institutions. According to the analysis of prognostic significance and prevalence of risk factors of hearing loss and deafness in Russian population of newborns, it is necessary to perform full hearing examination regardless of the results of newborns and infants hearing screening with the following risk factors: 1) cases of persistent child hearing loss in the family; 2) syndromes associated with hearing loss; 3) auricle, ear canal and dentofacial anomalies; 4) congenital infection (cytomegalovirus, rubella, syphilis, toxoplasmosis); 5) stay in newborns intensive care unit for more than 2 days; 6) prematurity of 32 weeks or less; birth weight less than 1500 g; 7) hyperbilirubinemia in perinatal period (exchange blood transfusion; total bilirubin level when exchange blood transfusion is needed); 8) usage of ototoxic drugs; 9) severe perinatal damage to the central nervous system, neurodegenerative diseases; 10) ambiguous reaction to sounds, developmental delay. Conclusion. Maintenance of all-round newborns hearing screening algorithm will allow us to avoid the diagnosis delay, to start the rehabilitation earlier and further to significantly increase the efficacy of modern high-tech methods for correcting hearing disorders in children. We have to check the presence of risk factors of hearing loss and deafness in every child. Timely referral of children with risk factors for the second stage of audiological screening, diagnosis and correction of hearing disorders creates conditions for normal child oral-aural development.

show abstract

“…В то же время при отсутствии родственников с нарушением слуха наследственный характер заболевания можно установить только с помощью генетических анализов. Выраженная генетическая гетерогенность нарушений слуха остается основным препятствием для точной диагностики причин тугоухости [19][20][21].…”

Section: Rossiiskaya Otorinolaringologiyaunclassified

Genetic examination of children with hearing impairment in the astrakhan region

Григорьева¹,

Ivanova²,

Маркова³

et al. 2020

Self Cite

View full text Add to dashboard Cite

To study the prevalence of mutations in the GJB2 gene in deaf and deaf children in the Astrakhan region and compare them with the frequency of mutations in children with hearing impairment living in other regions of the Russian Federation taking into account regional characteristics. This work describes the results of epidemiological, audiological analysis, medical and genetic examination of children. We examined 6 frequent recessive mutations in the GJB2 gene in a group of 79 hearing impaired children registered with the Regional Center for Hearing Rehabilitation. Mutations were detected in 36 children (46%), with two mutations found only in 18 children (23%), and another 18 children were carriers of the same mutation. In 9 children (11.5%), the 35 delG mutation was detected in the homozygous state and in 9 children (11.5%) in the compound heterozygous state with a different mutation. We have shown that the results obtained do not correspond to the high prevalence of gene mutations (more than 50%) in groups of children with hearing impairment, established in most regions of the Russian Federation, as well as in several countries in Europe, China and Japan. The large number of carriers of a single gene mutation indicates the need to study the entire gene sequence and may be a consequence of the mixed ethnic composition of the subjects.

show abstract

Epidemiology of hearing loss in children of the first year of life

Cited by 17 publications

References 19 publications

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

Recommendations for All-Round Newborns and Infants Hearing Screening in Russian Federation

Genetic examination of children with hearing impairment in the astrakhan region

Contact Info

Product

Resources

About