Prelingual Hearing Loss Research Articles

New SMS Classification of Cochleovestibular Anomalies: Our Experience with 25 Cases of Type I Anomaly.

To study and analyse the radiological and surgical findings of 25 cochlear implantees with SMS type-I cochleovestibular malformation and to compare their outcomes in terms of hearing and speech gains pre- and post-operatively. Retrospective analysis of cochlear implanted candidates over a period of 8year from 3 institutions was undertaken and 25 patients suffering from pre-lingual profound congenital sensori-neural hearing loss along with presence of SMS type I cochleovestibular malformation were studied. Pre-operative radiology, surgical difficulties and complication, and post-operative hearing and speech outcomes upto a period of 2years, using IT-MAIS scores were noted. Statistical comparison pre- and post-implantation was done using Wilcoxon signed rank test and a p-value of < 0.05 was considered significant. In 25 cases, we encountered 2 posterior SCC dysplasia, 15 enlarged vestibular aqueducts (LVA), 2 dilated vestibules, 4 superior SCC dysplasia, 2 cases with both posterior and superior SCC dysplasia and of those 1 had a dilated vestibule also. Intra-operatively, CSF leak was observed in 10 patients. Complete electrode insertion and good electrical response (NRT) was detected in all. No facial nerve anomaly was encountered. IT-MAIS scores increased from a pre-operative mean of 4.32 to 34.56 two years post-operatively and this difference was found to be statistically significant. Our experience with SMS Type I malformations show promising and motivating results with less chances of complications, similar to implant candidates with normal anatomy. The outcomes in this group of patients are definitely not affected by any malformations in semicircular canals, vestibule or vestibular aqueduct.

MiRNA and mRNA Profiling Links Connexin Deficiency to Deafness via Early Oxidative Damage in the Mouse Stria Vascularis.

Pathogenic mutations in the non-syndromic hearing loss and deafness 1 (DFNB1) locus are the primary cause of monogenic inheritance for prelingual hearing loss. To unravel molecular pathways involved in etiopathology and look for early degeneration biomarkers, we used a system biology approach to analyze Cx30−/− mice at an early cochlear post-natal developmental stage. These mice are a DFNB1 mouse model with severely reduced expression levels of two connexins in the inner ear, Cx30, and Cx26. Integrated analysis of miRNA and mRNA expression profiles in the cochleae of Cx30−/− mice at post-natal day 5 revealed the overexpression of five miRNAs (miR-34c, miR-29b, miR-29c, miR-141, and miR-181a) linked to apoptosis, oxidative stress, and cochlear degeneration, which have Sirt1 as a common target of transcriptional and/or post-transcriptional regulation. In young adult Cx30−/− mice (3 months of age), these alterations culminated with blood barrier disruption in the Stria vascularis (SV), which is known to have the highest aerobic metabolic rate of all cochlear structures and whose microvascular alterations contribute to age-related degeneration and progressive decline of auditory function. Our experimental validation of selected targets links hearing acquisition failure in Cx30−/− mice, early oxidative stress, and metabolic dysregulation to the activation of the Sirt1–p53 axis. This is the first integrated analysis of miRNA and mRNA in the cochlea of the Cx30−/− mouse model, providing evidence that connexin downregulation determines a miRNA-mediated response which leads to chronic exhaustion of cochlear antioxidant defense mechanisms and consequent SV dysfunction. Our analyses support the notion that connexin dysfunction intervenes early on during development, causing vascular damage later on in life. This study identifies also early miRNA-mediated biomarkers of hearing impairment, either inherited or age related.

Hearing Status Affects Children's Emotion Understanding in Dynamic Social Situations: An Eye-Tracking Study.

For children to understand the emotional behavior of others, the first two steps involve emotion encoding and emotion interpreting, according to the Social Information Processing model. Access to daily social interactions is prerequisite to a child acquiring these skills, and barriers to communication such as hearing loss impede this access. Therefore, it could be challenging for children with hearing loss to develop these two skills. The present study aimed to understand the effect of prelingual hearing loss on children's emotion understanding, by examining how they encode and interpret nonverbal emotional cues in dynamic social situations. Sixty deaf or hard-of-hearing (DHH) children and 71 typically hearing (TH) children (3-10 years old, mean age 6.2 years, 54% girls) watched videos of prototypical social interactions between a target person and an interaction partner. At the end of each video, the target person did not face the camera, rendering their facial expressions out of view to participants. Afterward, participants were asked to interpret the emotion they thought the target person felt at the end of the video. As participants watched the videos, their encoding patterns were examined by an eye tracker, which measured the amount of time participants spent looking at the target person's head and body and at the interaction partner's head and body. These regions were preselected for analyses because they had been found to provide cues for interpreting people's emotions and intentions. When encoding emotional cues, both the DHH and TH children spent more time looking at the head of the target person and at the head of the interaction partner than they spent looking at the body or actions of either person. Yet, compared with the TH children, the DHH children looked at the target person's head for a shorter time (b = -0.03, p = 0.030), and at the target person's body (b = 0.04, p = 0.006) and at the interaction partner's head (b = 0.03, p = 0.048) for a longer time. The DHH children were also less accurate when interpreting emotions than their TH peers (b = -0.13, p = 0.005), and their lower scores were associated with their distinctive encoding pattern. The findings suggest that children with limited auditory access to the social environment tend to collect visually observable information to compensate for ambiguous emotional cues in social situations. These children may have developed this strategy to support their daily communication. Yet, to fully benefit from such a strategy, these children may need extra support for gaining better social-emotional knowledge.

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis

Background: Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form. Objective: The aim of the study was to unravel the genetic cause of medical problems in a 21-year-old woman, whose phenotypic presentation extended beyond Stickler syndrome and included enlarged vestibular aqueduct (EVA) and persistent microhematuria. Methods and Results: After sequencing of clinical exome, a known de novo COL2A1 pathogenic variant (c.1833+1G>A, p.?) causative for Stickler syndrome and one paternally inherited pathogenic change in COL4A5 (c.1871G>A, p.Gly624Asp) causative for X-linked Alport syndrome were found. No pathogenic variants, including those within the SLC26A4 5′ region (Caucasian EVA haplotype), explaining the development of EVA, were identified. Conclusions: The study reveals a multilocus genomic variation in one individual and provides a molecular diagnosis of two HL syndromes that co-occur in the proband independent of each other. For the third entity, EVA, no etiological factor was identified. Our data emphasize the relevance of detailed clinical phenotyping for accurate genotype interpretation. Focus on broadening the phenotypic spectrum of known genetic syndromes may actually obscure patients with multiple molecular diagnoses.

Use of Cone Beam Computed Tomography to Assess Cochlear implant Electrode Position with Correlation to Performance.

Aim: Cone Beam Computed Tomography (CBCT) has been used in a variety of maxillodental applications and recently, it has proved to be effective in the otorhinolaryngology field. In this study, we used CBCT for assessment of scalar location, insertion length and distance between the cochlear implant electrode array and modiolus and correlate these factors to speech performance.Materials & Methods: This study was carried out on 30 children with bilateral severe to profound prelingual sensorineural hearing loss that had undergone cochlear implantation. Radiological assessment of electrode arrays position using CBCT was performed and correlated with speech recognition score..Results: CBCT revealed that the electrode array was inserted in the scala tympani in 26/30 children (86.66%) and showed better speech recognization score than scala vestibule insertion. The mean distance between the modiolus and electrode arrays was 0.53 ± 0.11 mm and the average length of insertion was 21.49 ± 3.65mm. Distance between the electrode array and modiolus was negatively correlated to audiological performance in all patients. Pearson test showed a statistically significant positive correlation between insertion length and speech recognition score. Conclusion: CBCT is very effective in localizing cochlear implant electrode arrays. Depth of insertion and closer distance to modiolus are associated with statistically better speech outcome.

Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.

Autosomal recessive nonsyndromic hearing loss (DFNB) is relatively frequent in Pakistan, which is thought to be mainly due to relatively frequent consanguinity. DFNB genes vary widely in their kinds and functions making molecular diagnosis difficult. This study determined the genetic causes in five Pakistani DFNB families with prelingual onset. The familial genetic analysis identified four pathogenic or likely pathogenic homozygous mutations by whole exome sequencing: two splicing donor site mutations of c.787+1G>A in ESRRB (DFNB35) and c.637+1G>T in CABP2 (DFNB93) and two missense mutations of c.7814A>G (p.Asn2605Ser) in CDH23 (DFNB12) and c.242G>A (p.Arg81His) in TMIE (DFNB6). The ESRRB and TMIE mutations were novel, and the TMIE mutation was observed in two families. The two missense mutations were located at well conserved sites and in silico analysis predicted their pathogenicity. This study identified four homozygous mutations as the underlying cause of DFNB including two novel mutations. This study will be helpful for the exact molecular diagnosis and treatment of deafness patients.

Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss.

Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have deleterious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling.

Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.

Alpha-chain collagen molecules encoded by genes that include COL11A1 are essential for skeletal, ocular, and auditory function. COL11A1 variants have been reported in syndromes involving these organ systems. However, a description of the complete clinical spectrum is lacking, as evidenced by a recent association of autosomal dominant nonsyndromic hearing loss due to a splice-altering variant in COL11A1, mapping the DFNA37 locus. Here, we describe two German families presenting prelingual autosomal dominant nonsyndromic hearing loss with novel COL11A1 heterozygous splice-altering variants (c.652-1G>C and c.4338+2T>C) that were molecularly characterized. Interestingly, the c.652-1G>C variant affects the same intron 4 canonical splice site originally reported in the DFNA37 family (c.652-2A>C) but elicits a different splicing outcome. Furthermore, the c.4338+2T>C variant originated de novo. We provide clinical and molecular genetic evidence to unambiguously confirm that COL11A1 splice-altering variants cause DFNA37 hearing loss and affirm that COL11A1 be included in the genetic testing of patients with nonsyndromic deafness.

Reading Outcomes in Elementary School–Age Children With Hearing Loss Who Use Listening and Spoken Language: A Preliminary Report

PurposeThis study examined reading outcomes and a comprehensive set of linguistic and cognitive factors considered to be associated with reading outcomes in children with hearing loss who use hearing aids or cochlear implants.MethodSeventeen children with bilateral, prelingual hearing loss who use listening and spoken language and attended Grades 3–5 at a private oral school for the deaf participated in this study. Children were administered 13 subtests from norm-referenced tests pertaining to reading outcomes (reading comprehension and decoding), linguistic factors (vocabulary, background information, literal inferencing, nonliteral inferencing, and grammatical knowledge), and cognitive factors (verbal working memory, short-term memory, phonological short-term memory, and analytical reasoning).ResultsPerformance of children with hearing loss was within normal ranges when compared to the normative means on all factors assessed except for nonword repetition. Furthermore, the performance of children with cochlear implants was comparable to that of the hearing aid users on all measures except for nonword repetition. Decoding was positively correlated with grammatical knowledge, analytical reasoning, and nonword repetition, whereas reading comprehension was positively correlated with grammatical knowledge, analytical reasoning, and inferencing.ConclusionsPreliminary findings from this study suggest that elementary school–age children with hearing loss demonstrated positive outcomes with respect to reading outcomes and other factors assessed except for the nonword repetition task. Findings suggest that a nonword repetition task may be used to flag children with hearing loss who may experience difficulties with decoding. Given that grammatical knowledge and analytical reasoning showed moderate-to-moderately strong correlation with both reading outcome measures, it is recommended that multicomponent reading intervention programs for elementary school–age children with hearing loss incorporate explicit instruction in these domains.

Bimodal Stimulation in Children With Bilateral Profound Sensorineural Hearing Loss: A Suitable Intervention Model for Children at the Early Developmental Stage.

To evaluate the auditory and speech benefit of bimodal stimulation for prelingual deafened cochlear implantation recipients. Retrospective and comparative study. Tertiary referral center. Fifty-six children with bilateral prelingual profound sensorineural hearing loss were enrolled, including 28 consecutive children with unilateral cochlear implantation (CI group), and 28 consecutive children with bimodal stimulation (BI group) who used an additional hearing aid (HA) in the contralateral ear. Hearing assessments included the Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) and Categories of Auditory Performance (CAP). Speech evaluations included the Meaningful Use of Speech Scale (MUSS), and Speech Intelligibility Rating (SIR). These measurements were evaluated at the first mapping of cochlear implants and 0.5, 1, 3, 6, 12, 18, 24 months after. Data were analyzed by repeated measures analysis. The mean ages of BI and CI groups were similar (17.6 ± 6.87 vs 19.0 ± 8.10 months, p = 0.497). The initial scores for hearing and speech assessments showed no differences between the two groups, apart from IT-MAIS (2.46 ± 0.631 in BI group vs 0.50 ± 0.279 in CI group, p = 0.004). The auditory and speech development over time were different in the two groups as seen in IT-MAIS (p < 0.001), CAP (p = 0.029), MUSS (p < 0.001), and SIR (p < 0.001). A continuing but stable difference was observed in CAP, MUSS, and SIR at 3, 18, and 12 months after the first mapping, respectively. In addition, the BI group had better IT-MAIS scores at 3 and 6 months compared with the CI group; however, the difference was not significant after 12 months. Bimodal stimulation is beneficial for prelingually deafened CI recipients who have minimal contralateral residual hearing when bilateral CIs are not available. Hearing aid use in the contralateral ear might be recommended for children after unilateral cochlear implantation to facilitate the development of auditory and speech skills.

Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.

We report the underlying genetic causes of prelingual hearing loss (HL) segregating in eight large consanguineous families, ascertained from the Punjab province of Pakistan. Exome sequencing followed by segregation analysis revealed seven potentially pathogenic variants, including four novel alleles c.257G>A, c.6083A>C, c.89A>G, and c.1249A>G of CLPP, CDH23, COL4A5, and LARS2, respectively. We also identified three previously reported HL-causing variants (c.4528C>T, c.35delG, and c.1219T>C) of MYO15A, GJB2, and TMPRSS3 segregating in four families. All identified variants were either absent or had very low frequencies in the control databases. Our in silico analyses and 3-dimensional (3D) molecular modeling support the deleterious impact of these variants on the encoded proteins. Variants identified in MYO15A, GJB2, TMPRSS3, and CDH23 were classified as “pathogenic” or “likely pathogenic”, while the variants in CLPP and LARS2 fall in the category of “uncertain significance” based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity guidelines. This paper highlights the genetic diversity of hearing disorders in the Pakistani population and reports the identification of four novel mutations in four HL families.

Is the spread of excitation width correlated to the speech recognition in cochlear implant users?

To assess whether there is an interference of the spread of excitation (SOE) on speech recognition. Retrospective cross-sectional study, approved by the institution's ethics committee (CAAE03409212.8.0000.0068). Adult patients with intraoperative neural response telemetry (NRT) performed on electrodes 6, 11 and 16 implanted with Cochlear Ltd (Sydney, Australia) devices were selected. Patients with partial array insertion, pre-lingual hearing loss, deafness etiology due to and CI experience less than 12months were excluded. SOE was recorded at 10 current units above the NRT threshold (tNRT) and its width in millimeters was collected at point 0.75 of the function. Speech recognition test was 25-recorded monosyllables list, presented at 65dBHL at 0° azimuth in a sound treated booth. The analysis was divided into groups by electrode array type, regarding the tNRT, SOE width, SOE's peak amplitude and electrode peak. A 126 SOE measurements of the 3 tested electrodes were obtained from 43 patients. Patients with straight array had significantly wider SOE, greater peak amplitude at electrode 6 and higher tNRTs. In the perimodiolar array, there was a negative correlation between SOE and monosyllables recognition at electrodes 6 and 11, and in the combined average of the three electrodes, with a significant difference in electrode 11. Sixty-six percent of the SOE measurements had their peak shifted to adjacent electrodes. It was observed, in perimodiolar array, the greater the dispersion of electrical current, the worse the speech recognition, especially in the medial electrode.

Competences in Polish sign language and the ability to understand read text in G students / deaf students

Research to date indicates a relationship between reading skills and sign language competences in G people / deaf people. These data, however, only apply to sign languages that have undergone extensive scientific analysis (e.g. American Sign Language). Currently, there are no scientific reports in Poland regarding competences in sign language and in reading in G students / deaf students. For this reason, the present study analyses the relationship between Polish Sign Language (PSL) and understanding of the text read in written Polish. The study involved 52 G students / deaf students with prelingual hearing loss in severe or profound grades I-VI in special primary schools for deaf children and adolescents. Competences at PSL were measured using the Polish Sign Language Grammar Comprehension Test, and comprehension of the text read was tested using the Reading test by Maria Grzywak-Kaczyńska. Hierarchical analysis of multivariate regression showed that competences in PSL are a variable explaining the level of understanding of the read text (in the model the first explanatory the variable was age). Therefore, it has been demonstrated that competences in PSL are relevant to learning to read in Polish among G students / deaf students. The results obtained are important for surdopedagogical practice: they draw attention to the need to improve competences in sign language and to use sign language in the process of learning to read and develop this skill.

Music Training for Children With Sensorineural Hearing Loss Improves Speech-in-Noise Perception.

Purpose A growing body of evidence suggests that long-term music training provides benefits to auditory abilities for typical-hearing adults and children. The purpose of this study was to evaluate how music training may provide perceptual benefits (such as speech-in-noise, spectral resolution, and prosody) for children with hearing loss. Method Fourteen children aged 6-9 years with prelingual sensorineural hearing loss using bilateral cochlear implants, bilateral hearing aids, or bimodal configuration participated in a 12-week music training program, with nine participants completing the full testing requirements of the music training. Activities included weekly group-based music therapy and take-home music apps three times a week. The design was a pseudorandomized, longitudinal study (half the cohort was wait-listed, initially serving as a passive control group prior to music training). The test battery consisted of tasks related to music perception, music appreciation, and speech perception. As a comparison, 16 age-matched children with typical hearing also completed this test battery, but without participation in the music training. Results There were no changes for any outcomes for the passive control group. After music training, perception of speech-in-noise, question/statement prosody, musical timbre, and spectral resolution improved significantly, as did measures of music appreciation. There were no benefits for emotional prosody or pitch perception. Conclusion The findings suggest even a modest amount of music training has benefits for music and speech outcomes. These preliminary results provide further evidence that music training is a suitable complementary means of habilitation to improve the outcomes for children with hearing loss.

Application of the new SMS system of cochleovestibular anomalies: our experience with nine cases of type III anomaly.

To present and analyse the radiological findings, surgical findings, pre-implantation and post-implantation speech and hearing outcomes of nine children with SMS Type III cochleovestibular malformation. Retrospective case series of nine children with pre-lingual profound sensorineural hearing loss who underwent cochlear implantation (Jan 2012 to July 2019). These children had been classified as Type III malformation according to theSMS Classification of cochleovestibular anomalies. Facial nerve anomalies, CSF leaks and any other significant surgical finding were noted. Meaningful Auditory Integration Scale (MAIS) was used to report the child's pre-operative and two-year post-implantation auditory and speech abilities. Any significant improvement was assessed using the Wilcoxon signed rank test. P value < 0.05 was considered significant. Out of nine patients, five patients sustained CSF gushers, while three patients had mild CSF leak, which were plugged adequately. No facial nerve anomalies were encountered. Post-op course was uneventful for all nine patients. MAIS scores at a two-year follow-up showed significant statistical improvement (P < 0.05) when compared to pre-operative scores. Cochlear implant is the treatment of choice for children with type III cochleovestibular malformation. There are significant auditory and speech improvements expected. However, the surgeon should bear in mind the risk of CSF leak and subsequent meningitis.

Quality of life and parental care burden in cochlear implanted children: A case–control study

ObjectivesCochlear implantation is a widely accepted and effective surgical method used to treat severe hearing loss. What's more, it affects the lives of both cochlear implanted children and their parents. This study aims to compare cochlear-implanted children (CIC) and their parents with healthy counterparts and their parents in terms of the quality of life (QOL) and parental care burden (CB). MethodsThis study was conducted between February and December 2018 in Turkey after receiving approval from the ethics committee. The Case Group included 34 children between 3 and 7 years of age, who received a CI due to bilateral prelingual sensorineural hearing loss and were using it for at least 1 year, and their parents. The Control Group consisted of 68 healthy children and their parents. The data were collected using disease and age-specific quality of life scales and burden interview. Normally distributed variables were analysed using parametric tests while non-normally distributed variables were analysed using nonparametric tests. The odds ratio (OR) and confidence interval (95%) were also calculated. Results were evaluated at significance level of p < 0.05. ResultsThe mean age of the children and their parents in both Case and Control Groups was 63.9 months and 33.8 years, and 61.3 months and 36.6 years, respectively. There was a positive correlation between PPQ social relationship subscale and KINDL subscale scores in CIC (p < 0.05). The Case Group obtained lower mean scores from the subscales of KINDL and WHOQOL-BREF (p < 0.001, p < 0.01). The ZBI mean scores of the parents in Case and Control Groups were 43.18 and 27.54, respectively (p = 0.000). ConclusionIt was determined that the QOL of the Case Group was lower than QOL of the Control Group, while the CB of the Case Group was higher than CB of the Control Group.

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family

BackgroundThe autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4 and TRIOBP-1. Among them, TRIOBP-5/− 4 are expressed in the inner ears and crucial for maintaining the structure and function of the stereocilia.MethodsThe proband is a 26-year-old Chinese female. She and her younger brother have being suffered from severe deafness since birth, whereas her parents, who are cousins, have normal communication ability. Hearing impairment of the two siblings was determined by pure tone audiometry. Whole Exome Sequencing (WES) was performed on the genomic DNA of the proband and Sanger sequencing was conducted on the DNA samples of the four family members.ResultsTests of pure tone hearing thresholds showed a severe to profound symmetric hearing loss for the proband and her younger brother. Moreover, a novel TRIOBP c.1342C > T (p.Arg448*) variant was identified by WES in the DNA sample of the proband and confirmed by Sanger sequencing in DNA of the family members.ConclusionsThe TRIOBP c.1342C > T (p.Arg448*) variant is predicted to disrupt TRIOBP-5 and TRIOBP-4, which may lead to the congenital deafness. The results will broaden the spectrum of pathogenic variants in TRIOBP gene. The characteristics of deafness in the family imply that marriage between close relatives should be avoided.

Etiology of Prelingual Hearing Loss in the Universal Newborn Hearing Screening Era: A Scoping Review.

To conduct a scoping review on etiologic investigation of prelingual hearing loss among children <2 years of age in the era of universal newborn hearing screening (UNHS). PubMed, Embase, PsycInfo, CINAHL, and Cochrane Library databases. We searched for articles published from January 1, 1998, to February 19, 2020. We reviewed studies that (1) included children identified with either congenital or delayed-onset hearing loss before 2 years of age among cohorts who had undergone UNHS and (2) investigated ≥1 etiologies of hearing loss. We defined hearing loss as congenital when confirmed after UNHS failure and as delayed onset when diagnosed after ≥1 assessments with normal hearing. Among 2069 unique citations, 115 studies met criteria for full-text assessment, and 20 met our inclusion criteria. Six studies tested children diagnosed with hearing loss for genetic etiology, 9 for congenital cytomegalovirus (CMV) infection, and 5 for both. Among 1787 children with congenital hearing loss and etiologic investigation, 933 (52.2%) were tested for genetic mutations and 1021 (57.1%) for congenital CMV infection. The proportion of congenital hearing loss cases attributable to genetic etiology ranged between 7.7% and 83.3% and to congenital CMV infection between 0.0% and 32.0%. Data are lacking on the identification and etiology of delayed-onset hearing loss in children <2 years of age in the UNHS era. The proportion of congenital hearing loss cases attributable to genetic etiologies and congenital CMV infection appears to vary widely.

The limitation of risk factors as a means of prognostication in auditory neuropathy spectrum disorder of perinatal onset

ObjectiveThe management of hearing loss due to auditory neuropathy spectrum disorder (ANSD) in neonates and infants is challenging because speech and language development prognosis cannot be directly inferred from early audiometric hearing thresholds. Consequently, appropriate intervention with hearing aids or cochlear implantation (CI) can be delayed. Our objective was to determine whether any features of patient history could be used to identify CI candidates with ANSD at an earlier age. MethodA database was maintained over 11 years to monitor cases of perinatal onset ANSD. Risk factors associated with the perinatal time period considered pertinent to hearing outcomes were assessed, including prematurity, birth weight, APGAR score, ototoxic drugs, and hyperbilirubinemia. Children with cochlear nerve aplasia and genetic mutations were excluded. Hearing outcome was determined according to mode of auditory rehabilitation beyond 30 months of age: A) no hearing device; B) hearing aid; C) CI. ResultsOf twenty-eight children with ANSD, nine (32%) had behavioural thresholds and language development sufficient to require no assistive device, 9 (32%) were fitted with hearing aids and 10 (36%) had CIs. The average age at CI (3.45 ± 2.07 years) was significantly older than the age at CI of other children in our program with prelingual hearing loss (2.05 ± 1.14 years; p = 0.01 Mann-Witney U Test). None of the putative risk factors for hearing loss reliably predicted the need for subsequent CI. ConclusionThe small sample size in this study is sufficient to confirm that clinical history alone does not reliably predict which young children with perinatal-onset ANSD will require CI. Consequently, timing for CI remains delayed in these children, potentially affecting speech and language outcome. The pathogenesis of perinatal-onset ANSD remains undetermined and novel means of assessment are required for prognostication in affected infants.

Cochlear implantation outcomes in adults: A scoping review.

Cochlear implantation has become known as “the treatment of choice” for adults with severe to profound hearing loss. Wide variability exists, however, in the way hearing loss severity is measured and in the candidacy criteria used to recommend cochlear implantation.ObjectivesThis study aimed to provide a descriptive analysis of recent evidence available in the literature in relation to the efficacy of unilateral cochlear implantation in adults, the general findings of these studies, and the populations to which these findings apply. It also aimed to appraise the individual success rate and the magnitude of benefit following implantation.DesignA scoping review was conducted to identify English-language, peer-reviewed journal articles published between 2000 and 2018 assessing the outcomes of cochlear implantation in adults who received their first cochlear implant from 2000 onwards. To be included, studies had to report speech perception or self-reported measures of listening or quality of life at least three months after implantation. Systematic searches were conducted in Medline, Embase, Web of Science and Google Scholar. A two-stage screening approach was used, with seven reviewers independently screening titles and abstracts against inclusion criteria and three from this group further reviewing full-texts. A data charting form was developed and trialled, with 10% of the study data extracted in duplicate to compare results and further refine the form. Data relevant for efficacy analyses were extracted from studies with sample sizes of at least 10 participants.ResultsA total of 4182 abstracts were screened against inclusion criteria, and of these, 603 full-texts were further screened. After exclusion of non-eligible articles, 201 articles were included in the first part of this scoping review. The majority of these articles were case series or comparative studies without a concurrent group, and had small sample sizes. Data synthesis conducted with the 102 articles with more than 10 participants highlighted that the average word perception ability improved from 8.2% to 53.9% after implantation. Self-reported benefit improved by 21.5 percentage points. At the individual level, 82.0% of adults with postlingual hearing loss and 53.4% of adults with prelingual hearing loss improved their speech perception ability by 15 percentage points or more. A small proportion had poorer ability after implantation or had stopped using the cochlear implant.ConclusionsDespite broad inconsistencies in measurement, research design, and reporting across articles, it is evident that cochlear implantation is beneficial to the majority of adults of any age who have limited aided speech perception abilities. While many adults with severe-to-profound hearing loss may also have poor speech perception abilities with hearing aids, the validity of using hearing loss severity as a criterion for cochlear implantation has not been demonstrated. Clinical and research recommendations derived from this review are provided.