Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users

Byčkova, Jekaterina; Mikštienė, Violeta; Kiveryte, Silvija; Mickevičienė, Vaiva; Gromova, Margarita Aleksandrovna; Cernyte, Gabriele; Mataitytė-Diržienė, Jurga; Stumbrys, Daumantas; Utkus, Algirdas; Lesinskas, Eugenijus

doi:10.1016/j.ijporl.2020.110043

Cited by 4 publications

(6 citation statements)

References 17 publications

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“…However, even with these results, the origin of hearing loss could not be identified in 17 children. This analysis concluded that GJB2 alterations were the most frequent cause of hearing loss and that only 14% of patients in this cohort had hearing loss of unknown etiology 11 .…”

Section: Syndromic Genetic Causes Of Hearing Loss Includementioning

confidence: 82%

“…Although there are several classifications regarding the etiology of congenital hearing loss, the most important to consider is a genetic or non-genetic cause (related to the environment) [1][2][3][4]11 . Regarding congenital presentation, more than 50% of early-onset bilateral sensorineural deafness cases have been considered to have a genetic cause 12 .…”

Section: Congenital Hearing Loss Etiologymentioning

confidence: 99%

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Congenital hearing loss: a literature review of the genetic etiology in a Mexican population

Torre-González¹,

Villanueva-García²,

García-Delgado³

et al. 2022

BMHIM

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Hearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to 30% of cases, it is related to syndromic entities. We performed a literature review of studies on congenital hearing loss of genetic origin in the Mexican population. We identified eight reports that showed that the pathogenic variants most frequently associated with hearing loss are related to the GJB2 gene, although in a low percentage (3%). Other mutations were identified in the GJB6, SLC26A4, or CHD23 genes. On this basis, a possible diagnostic strategy in Mexican patients with hearing loss is to consider an initial screening of these three genes. If these genes were negative for pathogenic variants, the following steps would be to consider second-generation sequencing analysis focused on panels of genes associated with hearing loss, isolated or syndromic, and if necessary, to perform exome or whole-genome analysis. Establishing an etiologic cause is critical in clinically evaluating patients with congenital hearing loss and their families. It can help determine rehabilitation strategies, such as hearing aids or cochlear implants and provide information on disease progression and genetic counseling in this population.

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Section: Syndromic Genetic Causes Of Hearing Loss Includementioning

confidence: 82%

Section: Congenital Hearing Loss Etiologymentioning

confidence: 99%

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population

Torre-González¹,

Villanueva-García²,

García-Delgado³

et al. 2022

BMHIM

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“…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.…”

Section: Discussionmentioning

confidence: 98%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Wiener-Vacher,

Campi,

Caldani

et al. 2024

JAMA Netw Open

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ImportanceChildren with profound hearing loss (HL) and vestibular impairment have worse cochlear implant outcomes compared with those without vestibular impairment. However, the decision for cochlear implantation is rarely based on vestibular function assessment as a complement to audiologic testing.ObjectivesTo identify the prevalence of vestibular impairment according to HL origin and to assess the association between vestibular impairment and delayed posturomotor development in children with profound HL.Design, Setting, and ParticipantsThis cohort study was conducted in a pediatric referral center for cochlear implantation in Paris, France, using medical records data on HL origin, vestibular assessment, and ages of developmental milestone achievement. The cohort included children with profound HL (loss &gt;90 dB HL) who completed vestibular assessment prior to cochlear implantation between January 1, 2009, and December 31, 2019. Data analyses were conducted between January and June 2023.Main Outcomes and MeasuresThe primary outcome was prevalence of vestibular impairment according to HL origin. Children were classified into 3 groups according to their responses to vestibular testing: normal vestibular function (NVF), partially impaired vestibular function (PVF), and complete bilateral vestibular loss (CBVL). Generalized logit models were performed to evaluate the association between vestibular impairment and causes of HL as well as posturomotor development delay.ResultsA total of 592 children were included (308 males [52.0%]; mean [SD] age, 38 [34] months). In children with documented HL origin (n = 266), 45.1% (120) had HL with genetic origin, 50.0% of which were syndromic (mainly Usher and Waardenburg syndromes) and 50.0% were nonsyndromic (mainly associated with connexin 26). Among patients with infectious HL origin (n = 74), 70.3% (52) had cytomegalovirus (CMV) infection. Vestibular impairment was found in 44.4% (263 of 592) of the children; it was mostly symmetrical in 88.9% (526) and was CBVL in 5.7% (34) of the cases. Vestibular impairment was present in 78.3% (47) of children with genetic syndromic HL (56.7% [34] with PVF; 21.7% [13] with CBVL) and in 69.2% (36) of children with CMV infection (57.7% [30] with PVF; 11.5% [6] with CBVL). Genetic syndromic HL origin was found to be more often associated with both PVF and CBVL than other HL causes. The odds of having delays in 4 developmental milestones (head holding, sitting, standing with support, and independent walking) were higher in both PVF and CBVL (eg, head-holding odds ratios: 2.55 and 4.79) compared with NVF, and the age of achieving these milestones was higher in CBVL than PVF (eg, head holding: 7.33 vs 4.03 years; P &lt; .001). All 4 developmental milestones were associated with the degree of vestibular impairment.Conclusions and RelevanceThis cohort study found that among children with profound HL, vestibular impairment was prevalent, varied according to HL origin, and associated with posturomotor development; while all developmental milestones were associated with vestibular impairment severity, not all HL causes were associated with vestibular impairment severity. Children with profound HL may benefit from complete vestibular assessment before cochlear implantation, which would support early and adapted management, such as physical therapy for CBVL and cochlear implantation strategy.

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Gram-Negative Bacterial Meningitis in Children and Hearing Loss

Yeşil,

Hacımustafaoğlu,

Arısoy

et al. 2023

Comprehensive ENT

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Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users

Cited by 4 publications

References 17 publications

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population

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

Gram-Negative Bacterial Meningitis in Children and Hearing Loss

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