Congenital Bilateral Profound Hearing Loss Research Articles

Age and Incidence of Cochlear Implantation in the Pediatric Population With Congenital Bilateral Profound Hearing Loss.

The current study characterizes age and incidence of cochlear implantation among qualifying children with congenital bilateral profound hearing loss in the U.S. Deidentified cochlear implantation data were acquired from prospectively collected patient registries from two cochlear implant (CI) manufacturers (Cochlear Americas and Advanced Bionics). Children <36 months old were assumed to have congenital bilateral profound sensorineural hearing loss. U.S. CI centers. Children <36 months old who received CIs. Cochlear implantation. Age at implantation and incidence. A total of 4,236 children <36 months old underwent cochlear implantation from 2015 to 2019. The median age at implantation was 16 months (interquartile range, 12-24 mo) and did not change significantly during the 5-year study period ( p = 0.09). Patients residing closer to CI centers ( p = 0.03) and treated at higher-volume centers ( p = 0.008) underwent implantation at a younger age. Bilateral simultaneous implantation increased from 38% to 53% of CI surgeries in 2015 and 2019, respectively. Children who received bilateral simultaneous CIs were younger compared with those receiving unilateral or bilateral sequential CIs (median, 14 versus 18 mo; p < 0.001). The incidence of cochlear implantation increased from 7,648 per 100,000 person-years in 2015 to 9,344 in 2019 ( p < 0.001). Although the incidence of pediatric CI recipients and the frequency of bilateral simultaneous implantation increased over the study period, age at implantation did not change significantly and far exceeded current Food and Drug Administration (9 mo) and American Academy of Otolaryngology and Head and Neck Surgery position statement (6-12 mo) guidelines.

Younger Age at Cochlear Implant Activation Results in Improved Auditory Skill Development for Children With Congenital Deafness.

The U.S. Food and Drug Administration indications for cochlear implantation in children is currently 9 months of age and older for children with bilateral profound sensorineural hearing loss (SNHL). Studies have shown that earlier activation of a cochlear implant (CI) can lead to better spoken language outcomes. As auditory skills are a precursor to the development of spoken language, this study was developed to investigate the influence of age at CI activation on auditory skill acquisition in young children. A secondary aim was to describe the auditory skills of children implanted prior to 9 months of age as compared to children with older ages of activation. Functional Listening Index (FLI) scores obtained during routine clinical visits were reviewed for 78 pediatric CI recipients with congenital bilateral profound hearing loss who were activated before 2 years of age. A linear mixed-effects model assessed the effect of age at CI activation on cumulative FLI scores over time. There was a significant interaction between age at activation and chronological age at the time of evaluation, indicating that children with earlier access to sound achieved a greater number of auditory skills than those with later CI activations when measured at the same chronological age. Children activated before the age of 9 months approximated scores expected of children with typical hearing, whereas children activated between 9 and 24 months of age did not. Younger age at CI activation is associated with increased auditory skills over time. Children who undergo cochlear implantation and CI activation before 9 months achieve more auditory skills by 4 years of age than children who are activated at later ages. These data suggest that reducing the approved age at cochlear implantation for children with congenital bilateral profound SNHL may support optimal auditory skill acquisition.

Sequential bilateral cochlear implant: long-term speech perception results in children first implanted at an early age

PurposeThe study aims to assess the benefit of sequential bilateral cochlear implantation in children with congenital bilateral profound hearing loss, submitted to the first implant at an early age.MethodsWe enrolled all the bilateral sequential cochlear implanted children who received the first implant within 48 months and the second within 12 years of age at our Institution. The children were submitted to disyllabic word recognition tests and Speech Reception Threshold (SRT) assessment using the OLSA matrix sentence test with the first implanted device (CI1), with the second implanted device (CI2), and with both devices (CIbil). Furthermore, we measured the datalogging of both devices. Then we calculated the binaural SRT gain (b-SRTgain) and checked the correlations between speech perception results and the b-SRTgain with the child’s age at CI1 and CI2, DELTA and the datalogging reports.ResultsWith the bilateral electric stimulation, we found a significant improvement in disyllabic word recognition scores and in SRT. Moreover, the datalogging showed no significant differences in the time of use of CI1 and CI2. We found significant negative correlations between speech perception abilities with CI2 and age at CI2 and DELTA, and between the SRT with CI1 and the b-SRTgain.ConclusionsFrom this study we can conclude that in a sequential CI procedure, even if a short inter-implant delay and lower ages at the second surgery can lead to better speech perception with CI2, children can benefit from bilateral stimulation independently of age at the second surgery and the DELTA.

Inner Ear Anomalies among Cochlear Implant Candidates in Erbil City, Iraq

Background and objective: To study the frequency of each type of inner ear abnormalities in cochlear implant candidates in Erbil city, Iraq. Methods: This is a case series study of high resolution computed tomography and magnetic resonance images of temporal bone in 111 candidates for cochlear implantation in Erbil city between June 2015 and December 2017; who had congenital bilateral profound hearing loss. Results: In total, 111 cases of congenital sensorineural hearing loss were included. Of these, 101 patients had a normal inner ear pattern. Ten patients identified to have inner ear anomalies (9%). unilateral anomaly seen in one child, so the total number of ears with inner ear anomalies was 19. Among these 19 abnormal ears, 7 were classified as incomplete partition type II (36.8%), 4 as incomplete partition type I (21.1%), 4 as a common cavity (21.1%), 2 as cochlear aplasia (10.5%), 1 as cochlear hypoplasia (5.3%) and 1 as Michel deformity (5.3%). Conclusions: The most common type of anomaly was incomplete partition type II “Mondini” deformity followed by common cavity and incomplete partition type I deformities. The incidence of congenital hearing loss with inner ear anomalies is similar to the results of such studies worldwide.

Targeted sequencing of CDH23 and GJB2 genes in an Iranian pedigree with Usher syndrome and non-syndromic hearing loss

Hearing loss is genetically classified as non-syndromic and syndromic deafness. Mutations in the GJB2 gene are the most main reason for autosomal recessive non-syndromic hearing loss. Moreover, Usher syndrome is the most common type of syndromic hearing and vision loss. Three types of this syndrome can be distinguished based on the hearing and vision deficit severity. Usher type 1 is the most severe type, defined by congenital bilateral profound hearing loss, vestibular areflexia and retinitis pigmentosa. Here, we present detailed analyses of clinical and genetical characteristics of two distinct families with both Usher syndrome and non-syndromic hearing loss in a pedigree. The Sanger sequencing analysis of the GJB2 gene revealed a homozygous c.35delG (p.Gly12Valfs *2) nonsense mutation in two cases with non-syndromic hearing loss. In addition, targeted exome sequencing of hearing loss-related genes identified a homozygous c.2206C > T (p.Arg736Ter) variant in CDH23 gene concerning two affected brothers with Usher syndrome type 1. The current investigation described the disease-causing variant in the CDH23 with new transferring form and implied the critical role of molecular testing in precise clinical diagnosis, genetic counselling of congenital hearing loss.

Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation.

To reveal a novel MITF gene mutation in Waardenburg syndrome (WS), which is an autosomal dominant inherited neurogenic disorder that consists of various degrees of sensorineural deafness and pigmentary abnormalities in the eyes, hair and skin. The genetic analysis of the Chinese family was conducted by whole-exome sequencing, then the results were confirmed by Sanger sequencing. WS is classified into type I to IV, which are identified by the W index, clinical characteristics and additional features. The MITF gene mostly accounts for WS type II. In this study, a de novo heterozygous mutation in the MITF gene, c.638A>G in exon 7, was identified in the patient diagnosed with WS type I features, as the W index was 2.17 (over 2.10), with dystrophia canthorum, congenital bilateral profound hearing loss, bilateral heterochromia irides, premature greying of the hair, and excessive freckling on the face at birth. She also underwent refractive errors and esotropia, reduced pigmentation of the choroid and visible choroid vessels. The mutation was not found in previous studies or mutation databases. The novel mutation in the MITF gene, which altered the protein in amino acids 213 from the glutamic acid to glycine, is the genetic pathological cause for WS features in the patient. Those characteristics of this family revealed a novel genetic heterogeneity of MITF in WS, which expanded the database of MITF mutations and offered a possible in correcting the W index value of WS in distinct ethnicities. Moreover, ocular symptoms should be emphasized in all types of WS patients.

A Retrospective Clinical Audit of Outcomes of Cochlear Implantation in Children with Multiple Disabilities in Comparison with Normal Implantees: A South Indian Experience

AimsCochlear implantation (CI) is established as a standard remedy for children with congenital bilateral profound hearing loss to attain hearing perception and thereby develop speech and language. A subgroup includes children with multiple disabilities in whom the implant helps to improve their quality of life and also of their families via enhanced communication skills. Cochlear implants today form an integral part of their multi-handicap rehabilitation process.Material and MethodsA retrospective cohort study was carried out on children with and without multiple handicaps who have received cochlear implantation at the cochlear implant clinic of MERF, Chennai, India over the past decade. Category of Auditory Performance (CAP) scores, Speech Intelligibility Rating (SIR) scores, and also Meaningful Auditory-Integration Scale (MAIS) and Meaningful Use of Speech Scale (MUSS) scores were compared at set time frequencies of 6 months and 12 months post-implantation between the two groups of implanted children.ResultsAll the four CAP, SIR, MAIS and MUSS scores showed improvement over time with auditory and speech therapy in both groups of children as reflected by the improvement in their quality of life. The normative group of implantees showed better improvement compared to the group of children with multiple disabilities.ConclusionIntensive habilitation is essential especially for children with multiple disabilities who have received cochlear implantation in which their special needs are addressed individually and optimised for the best outcome. The study shows that restoration of the special sense of hearing helps as a remedy to alleviate their other multi-handicaps to a notable extent.

Listening skill progress in children with cochlear implants in the first three months after implantation

&lt;p class="abstract"&gt;&lt;strong&gt;Background:&lt;/strong&gt; Development of auditory skills is triggered as soon as cochlear implantation is done. Very few studies have reported development of listening skills in cochlear implanted children in the immediate period following the implantation. The present study aims to&lt;strong&gt; &lt;/strong&gt;profile the development of auditory skills in children with cochlear implants during the first three months following implantation&lt;span lang="EN-IN"&gt;. &lt;/span&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Methods:&lt;/strong&gt; The tool used is Listening Progress Profile (LiP) which was used to collect information about listening skills one week prior to cochlear implantation, within a week of switch on and once every two weeks till the end of three months after implantation. Twelve children in the age range of one year to five years with congenital bilateral profound hearing loss, who were scheduled for unilateral cochlear implantation were included as participants&lt;span lang="EN-IN"&gt;. &lt;/span&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Results:&lt;/strong&gt; Results indicate a statistically significant improvement in LiP scores at each test interval. No significant difference was found in the listening skill progress for children implanted before and after three years of age. Younger male participants performed consistently better than older males and younger and older females&lt;span lang="EN-IN"&gt;. &lt;/span&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Conclusions:&lt;/strong&gt; LiP can be used as a major tool for assessing the development of listening skills in young children during the immediate post implantation period as it provides detailed information regarding the auditory performance towards a variety of stimuli&lt;span lang="EN-IN"&gt;.&lt;/span&gt;&lt;/p&gt;

Jervell and Lange-Nielsen syndrome in cochlear implanted patients: Our experience and a review of literature

ObjectivesTo share our experience in cochlear implanted patients with Jervell and Lange-Nielsen syndrome (JLNS), to review the literature results and to disclose precautions which have to be taken dealing with these patients. Materials and methodsElectrocardiograms (ECG) of 503 children with congenital bilateral profound hearing loss which were cochlear implanted in cochlear implant center of a tertiary hospital were evaluated for long QT syndrome. Clinical reports of the patients with JLNS were evaluated and a review of literature performed. ResultsThe prevalence of disease was 0.79% (four cases) in our center which is in the range of literature reports (0–2.6%). None of our patients had a history of syncopal attack. Two patients (50%) were born from parents with consanguineous marriage. Considering all precautions their cochlear implant surgeries were done uneventfully. A review of the literature has identified sixteen reports on cochlear implantation in a total of 38 children with JLNS. Similar to our cases none of the authors reported cardiac events during device switch-on. Nine available reports about the outcome of cochlear implantation in these patients indicated good auditory outcome. ConclusionIt is recommended that all congenitally deaf patients have an ECG taken as a part of the evaluation. As auditory stimuli is reported to be a specific trigger, it is prudent to activate the processor with continuous heart monitoring even though there is no reported cardiac event during device switch-on. Cochlear implantation can be performed relatively safely in these patients if necessary precautions have been taken appropriately and their auditory outcome is good. Triggers of the cardiac events should be avoided throughout their life.