Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss

Abstract

Children with bilateral sensorineural hearing loss (SNHL) should undergo a comprehensive medical evaluation to determine the underlying etiology and help guide treatment and counseling. In this article, we review the indications and rationale for medical evaluation of pediatric bilateral SNHL, including history and physical examination, imaging, genetic testing, specialist referrals, cytomegalovirus (CMV) testing, and other laboratory tests. Workup begins with a history and physical examination, which can provide clues to the etiology of SNHL, particularly with syndromic causes. If SNHL is diagnosed within the first 3 weeks of life, CMV testing should be performed to identify patients that may benefit from antiviral treatment. If SNHL is diagnosed after 3 weeks, testing can be done using dried blood spots samples, if testing capability is available. Genetic testing is oftentimes successful in identifying causes of hearing loss as a result of recent technological advances in testing and an ever-increasing number of identified genes and genetic mutations. Therefore, where available, genetic testing should be performed, ideally with next generation sequencing techniques. Ophthalmological evaluation must be done on all children with SNHL. Imaging (high-resolution computed tomography and/or magnetic resonance imaging) should be performed to assess for anatomic causes of hearing loss and to determine candidacy for cochlear implantation when indicated. Laboratory testing is indicated for certain etiologies, but should not be ordered indiscriminately since the yield overall is low.

Vestibular Impairment and Postural Development in Children With Bilateral Profound Hearing Loss

“…1 Regarding the distribution of HL origin, it is difficult to compare the present results with those in the literature, partly due to the advancement in technologies, which now allow for better screening of CMV and genetic causes, but also because of differences in the size and characteristics of the populations studied, as most of the studies did not focus on children or on cochlear implant candidates with profound HL. [15][16][17][18][19][20][21][22][34][35][36] In the present cohort, the main causes of profound HL in children were genetic and infectious. Of note, the proportion of children with unidentified HL origin was high (55.1%), but it was close to the range of 33% to 48% reported in the meta-analysis by Petersen et al 35 This finding could be explained by the fact that, in France, genetic testing for HL in children cannot systematically be performed because the decision is left to the parents.…”

“…In the literature, the incidences of different HL causes are highly variable according to study cohort size and population characteristics. [15][16][17][18][19][20][21][22] The most common causes for bilateral HL in children are CMV infection and genetic causes. Genetic causes represent 50% of pediatric HL, with approximately 70% being nonsyndromic and 30% being syndromic genetic cases.…”

“…In the literature, the incidences of different HL causes are highly variable according to study cohort size and population characteristics . The most common causes for bilateral HL in children are CMV infection and genetic causes.…”

Task force Guideline of Brazilian Society of Otology ‒ hearing loss in children – Part I ‒ Evaluation

“…To date, 124 genes linked to nonsyndromic hearing loss have been identified, 78 of which are autosomal recessive, 51 are autosomal dominant, and 5 are X-linked. 82 Among these, GJB2 (connexin 26) is the most common. The GJB2 (connexin 26) and GJB6 (connexin 30) genes, both at the DFNB1 locus, are most commonly associated with bilateral sensorineural hearing loss, accounting for up to 31% of genetic cases confirmed in a recent study.…”

Кохлеарная Имплантация Больных С Пороками Внутреннего Уха

“…Основная идея кохлеарной имплантации заключается в непосредственной электрической стимуляции нейронов спирального ганглия, что позволяет добиться слуховых потенциалов, несмотря на отсутствие волосковых клеток. При врожденных пороках развития внутреннего уха количество клеток, аксоны которых образуют слуховой нерв, как правило, меньше, чем при других формах сенсоневральной тугоухости [1,8,10,23,26,28,34,47]. Нормальный спиральный ганглий человека содержит от 25 000 до 35 000 клеток.…”