Cochlear implant surgery is a cornerstone in the treatment of severe to profound hearing impairment. Despite comprising a significant proportion of the deaf population, children with additional needs have only been included for cochlear implant candidacy in recent years. This paper aims to evaluate the long-term progress of children with additional needs post-implantation compared to children without additional and assess how this trend changes over time.
METHODS: This is a longitudinal cohort study comparing the outcomes between children with no additional needs, children with a single additional need, and children with multiple additional needs. The five outcome measures used assessed both auditory perception and expressive and receptive language. For each outcome measure, subjects were assessed pre implant and one-, three-, and five-years post-implant.
RESULTS: The total cohort consisted of 334 subjects: 181 with no additional needs, 116 with a single additional need, and 37 with multiple additional needs. The results showed that children with additional needs performed significantly poorer in all outcome measures compared to those without additional needs, with a greater negative effect associated with multiple additional needs. In auditory perception, both additional needs groups increased in rate of progress over time, in contrast to language capabilities for which the rate plateaued at a significantly lower level than children without additional needs. Once again, both of these effects were greater for the multiple additional needs group.
CONCLUSIONS: It is clear that there is reduced progress in children with additional needs compared to those without, and that the number of additional needs present is an important factor in this. Despite initial delays, it seems as though children with additional needs may catch up over time in auditory perception scores, however for language skills, this cohort may achieve limited scores even as time progresses. It is important to investigate this further to gauge the factors that are causing this discrepancy to see if any can be limited to maximise outcome.

BACKGROUND: Amblyopia occurs due to an imbalance in the visual input between the eyes. This can induce structural changes in the central nervous system and, if left untreated, eventually lead to permanent blindness in the affected eye. As these changes may also impact the auditory system, which closely interacts with the visual system, this study aimed to investigate the risk of hearing loss in patients with amblyopia.
METHODS: This study was a retrospective review of the electronic medical records contained in a United States national database of medical records. Patients younger than 18 years old with and without amblyopia were matched and compared to evaluate the relative risk (RR) of having a hearing loss. Stratified analyses were further performed to explore whether the disease laterality and the amblyopia subtype influenced the risks.
RESULTS: Compared to the controls, patients with amblyopia had a higher overall risk of having hearing loss (RR: 1.09, CI: 1.03-1.14), specifically sensorineural hearing loss (SNHL) (RR: 1.24, CI: 1.08-1.42). The stratified analysis further revealed that SNHL was associated with refractive amblyopia (RR: 1.84, CI: 1.50-2.26), but not strabismic amblyopia (RR: 1.23, CI: 1.10-1.38). The laterality of amblyopia did not influence the risk of hearing loss.
CONCLUSIONS: Children with amblyopia have a higher rate of SNHL than children without amblyopia. As vision and hearing are essential in the proper cognitive development, language acquisition, and social and emotional well-being of children, patients with amblyopia may benefit from more frequent audiologic screening.

BACKGROUND: Functional magnetic resonance imaging (fMRI) studies have revealed extensive functional reorganization in patients with sensorineural hearing loss (SNHL). However, almost no study focuses on the dynamic functional connectivity after hearing loss.
OBJECTIVE: This study aimed to investigate dynamic functional connectivity changes in children with profound bilateral congenital SNHL under the age of 3 years.
METHODS: Thirty-two children with profound bilateral congenital SNHL and 24 children with normal hearing were recruited for the present study. Independent component analysis identified 18 independent components composing five resting-state networks. A sliding window approach was used to acquire dynamic functional matrices. Three states were identified using the k-means algorithm. Then, the differences in temporal properties and the variance of network efficiency between groups were compared.
RESULTS: The children with SNHL showed longer mean dwell time and decreased functional connectivity between the auditory network and sensorimotor network in state 3 (P < 0.05), which was characterized by relatively stronger functional connectivity between high-order resting-state networks and motion and perception networks. There was no difference in the variance of network efficiency.
CONCLUSIONS: These results indicated the functional reorganization due to hearing loss. This study also provided new perspectives for understanding the state-dependent connectivity patterns in children with SNHL.

The inner ear is responsible for balance and auditory function. Sensorineural hearing loss (SNHL) affects auditory function across various age groups. Vestibular apparatus, particularly the otolith organ can also be affected in cases of SNHL because of the close proximity of the otolith organs with the cochlea inside the bony labyrinth. The otolith organs can be assessed with Subjective Visual vertical test (SVV), which is a simple, rapid, non-invasive test with high sensitivity and specificity. Present study was conducted with the objective to compare the SVV parameters between normal and SNHL patients and to correlate between the degree of tilt in SVV with severity of SNHL. A convenient sample size of 60 was taken of which 30 were control and 30 were SNHL patients. PTA and SVV were performed on both groups and results were analysed in IBM SPSS version 26. Age stratified analysis between the control group and SNHL group for the age group 20-40 years and for > 40 years revealed a significant statistical difference in the average static SVV (P = 0.019 and P = 0.009 for age group 20-40 years and > 40 years respectively) and dynamic anti clockwise SVV (P = 0.024 and P = 0.031 for age group 20-40 years, and > 40 years respectively) between the control group and the SNHL group. Correlational analysis also shows a moderate correlation between the bone conduction threshold and the various SVV parameters. Statistical difference of SVV parameters between the two groups suggests a possible early involvement of the otolith organ in SNHL. As such the utility of SVV as an early marker for otolith dysfunction needs to be further explored. It may be worthwhile to follow up the patients of SNHL longitudinally and assess the otolith function with SVV at periodic intervals to identify any progression.

This study investigates audiovestibular dysfunction in individuals with long-standing diabetes mellitus (DM). A cross-sectional study was conducted involving 100 patients (DM for ≥ 10 years) at the Department of E.N.T. in Prakash Institute of Medical Sciences and Research, Sangli, Maharashtra. A mean age of 43.09 years among patients, with 64% male and 36% female participants. Hearing loss was the most common complaint, affecting 46% of subjects, followed by vertigo in 23%. Pure tone audiometry revealed that 34% of patients had sensorineural hearing loss, with varying degrees of severity. Vestibular dysfunction was observed in 10% of cases. Correlation analysis indicated a significant positive relationship between the duration of DM and hearing thresholds at various frequencies, as well as with HbA1c levels. This suggests a worsening of hearing with longer DM duration and higher HbA1c levels. The prevalence of hearing impairment was higher at higher frequencies, with vestibular dysfunction also noted in a subset of patients.

Audiovestibular dysfunction in patients with systemic lupus erythematosus has been underestimated for decades. Systemic lupus erythematosus can affect both the auditory and vestibular systems simultaneously. Several potential pathophysiological mechanisms behind systemic lupus erythematosus-related audiovestibular dysfunction have been proposed, including antibody-mediated immune responses, cell-mediated cytotoxicity, immune complex deposition in microvessels, central involvement in the audiovestibular pathway, and ototoxicity from medications used in systemic lupus erythematosus treatment. Currently available tests to evaluate audiovestibular function in systemic lupus erythematosus patients are neither specific nor sensitive. Nevertheless, there is no consensus regarding the efficacy of treatments for audiovestibular dysfunction in such patients. In this systematic review, we electronically searched the PubMed, Embase, ClinicalKey, Web of Science, and ScienceDirect platforms to find eligible articles. The first inspection date was on 29 December 2023 and the final update search date was on 11 June 2024. Further, we rated the quality of the included articles with Newcastle-Ottawa Scale. Based upon the aforementioned systematic review process, we have summarized the currently available evidence on the characteristics, pathophysiology, examination, and treatment of audiovestibular dysfunction related to systemic lupus erythematosus. Furthermore, we have proposed a specific steroid treatment protocol to manage audiovestibular dysfunction related to systemic lupus erythematosus. Audiovestibular dysfunction related to systemic lupus erythematosus may be responsive to adequate treatments, potentially allowing for reversibility if the disease is recognized and managed in a timely manner. Therefore, to provide clinically relevant evidence to clinicians, we have organized this literature review article to summarize the available evidence on the characteristics, pathophysiology, examination, and treatment of audiovestibular dysfunction in patients with systemic lupus erythematosus. Finally, based on our modified steroid treatment protocol, we would like to provide a new treatment strategy to clinicians to manage systemic lupus erythematosus-related audiovestibular dysfunction.

Objective:This study aims to identify the genetic etiology underlying late-onset hearing loss in two unrelated Chinese families. Methods:Detailed clinical data of recruited participants of two families were collected and analyzed using next-generation sequencing, combined with Sanger sequencing and bioinformatics tools. Results:Patients in both families manifested as down-sloping audiograms, mainly with severe mid-to-high frequency hearing loss as well as decreased speech recognition rate, both of which occurred during the second decade. Next-generation sequencing panels succeeded in identifying mutations in gene TMPRSS3, and three heterozygous mutations were screened out, among which c. 383T>C was the first reported mutation. In silico functional analysis and molecular modeling defined the five mutations as \"pathogenic\" or \"likely pathogenic\" according to official guideline. Conclusion:The novel mutation combinations in TMPRSS3 gene segregated with an exclusive auditory phenotype in the two pedigrees. Our results provided new data regarding the characteristic deafness caused by TMPRSS3 mutations during adolescent period when hearing should be closely monitored.
目的：明确导致两个无相关性的家系发生迟发性听力损失的遗传病因。 方法：利用二代测序，结合Sanger测序和生物信息学预测工具对两个家系成员的临床资料进行分析。 结果：两个家系的患者均表现为10余岁起的以中高频为主的渐进性听力下降，且均出现言语识别率下降。二代测序提示听力下降与TMPRSS3基因突变有关，并筛选出3个杂合位点的突变，其中c.383T>C是首次报道的突变。生信预测提示本研究发现的5种TMPRSS3基因突变根据指南被归类为“致病性”或“可能致病性”。 结论：TMPRSS3基因复合杂合突变可能是导致迟发性遗传性听力损失的原因，应关注携带该致病基因突变患者青少年时期的听力情况。.

BACKGROUND: Cystic fibrosis (CF) is a severe hereditary disease with a multisystem lesion. Manifestations of CF include severe infectious purulent lesions of all parts of the respiratory tract, including purulent rhinosinusitis with nasal polyps. The involvement of the sinonasal region and the need for systemic use of ototoxic drugs (primarily aminoglycosides to treat resistant bacterial infection) potentially create a risk of both conductive and sensorineural hearing loss (SNHL). The available data on the epidemiology of hearing disorders in CF is contradictory. Currently, genetic determinants of the development of aminoglycoside SNHL have been identified.
METHODS: For 136 CF patients (75 girls, 61 boys) aged 3 to 17 (9.4±3.9) years were performed audiological examination: tympanometry, transient-evoked otoacoustic emission and the pure tone threshold audiometry (standard frequency range) (n=126). History of systemic therapy with aminoglycosides was evaluated for each patient. Sequencing of c.35delG mutations in the GJB2 gene (nuclear DNA) and A1555G in the 12S rRNA gene (mitochondrial DNA) was performed in 215 patients with cystic fibrosis (the group partially overlaps with the audiological group), and as a control - 106 children with bronchial asthma and 103 healthy children, their age ranged from 3 to 17 (8.8±3.8) years.
RESULTS: Audiological examination of CF children reveled a prevalence of conductive hearing loss comparable to the general population (2.4%). The frequency of SNHL was 1.6%, wich exceeds that of non-CF children. A genetic study revealed one case of heterozygous carriage of the c.35delG mutation in the GJB2 gene in a patient with bronchial asthma. In the group of patients with CF (n=215), mutations in the connexin 26 gene were not detected. No A1555G mutation was detected either in the group of patients with CF or in the control groups.
CONCLUSIONS: Children with CF are at risk for the development of sensorineural, but not conductive hearing loss. Routine total screening for A1555G and c.35delG mutations probably seems not to be recommended.
Муковисцидоз (МВ) — тяжелое наследственное заболевание с мультисистемным поражением. К проявлениям МВ относится и тяжелое поражение всех отделов респираторного тракта, включая полипозно-гнойный риносинусит. Вовлеченность синоназальной области и потребность в системном применении ототоксичных препаратов, прежде всего аминогликозидов, с целью борьбы с резистентной бактериальной флорой потенциально создают риск развития как кондуктивной, так и сенсоневральной тугоухости (СНТ). Имеющиеся данные об эпидемиологии нарушений слуха при МВ противоречивы. В настоящее время выявлены генетические детерминанты развития аминогликозидной СНТ.
UNASSIGNED: Определить распространенность клинически значимой тугоухости среди детей с муковисцидозом и частоту мутаций, обусловливающих аминогликозидную ототоксическую и врожденную несиндромальную двустороннюю СНТ у данной группы больных.
UNASSIGNED: Выполнено сурдологическое обследование 136 пациентов с МВ (75 девочек, 61 мальчика) в возрасте от 3 до 17 лет (9,4±3,9 года) в объеме акустической импедансометрии, регистрации задержанной вызванной отоакустической эмиссии и тональной пороговой аудиометрии в стандартном диапазоне частот (126 пациентов). В отношении каждого пациента оценивался анамнез системной терапии аминогликозидами. Определение мутаций c.35delG в гене GJB2 (ядерная ДНК) и A1555G в гене 12S rRNA (митохондриальная ДНК) проведено 215 пациентам с муковисцидозом и в качестве контроля 106 детям с бронхиальной астмой и 103 здоровым детям, возраст колебался от 3 до 17 лет (8,8±3,8 года).
UNASSIGNED: Аудиологическое обследование группы детей с МВ показало сравнимую с общей популяцией распространенность кондуктивной тугоухости (2,4%). Частота СНТ составила 1,6%, что превышает таковую у детей без МВ. При генетическом исследовании выявлен один случай гетерозиготного носительства мутации c.35delG в гене GJB2 у пациента с бронхиальной астмой. У пациентов с МВ (n=215) мутации в гене коннексина 26 не обнаружены. Ни одной мутации A1555G как у пациентов с МВ, так и у лиц контрольных групп не было.
UNASSIGNED: Дети с муковисцидозом находятся зоне риска по развитию сенсоневральной, но не кондуктивной тугоухости. Редкость мутаций A1555G и c.35delG, вероятно, не позволяет рекомендовать их поиск у всех пациентов с данной патологией.

UNASSIGNED: Biochemical testing is a common first-tier approach in the setting of genetic evaluation of patients with unexplained developmental delay. However, results can be unclear, and a plan for second-tier analysis must be determined based on the patient\'s biochemical results and clinical presentation - in many cases, triggering a diagnostic odyssey.
UNASSIGNED: A male patient from the United States presenting with unexplained developmental delay, microcephaly, hypotonia, and feeding difficulties was referred for clinical genetic evaluation at age 8 months. Biochemical testing revealed an isolated marked elevation of glutaric acid on urine organic acid profile, without elevations of related metabolites. Further testing included GCDH sequencing, a neurometabolic gene panel, chromosomal microarray, Prader Willi/Angelman testing, and lysosomal disease enzyme panel, all of which were non-diagnostic. The patient had persistent developmental delay and hypotonia, dystonia, sensorineural hearing loss, and abnormal brain myelination on magnetic resonance imaging. Whole exome sequencing (WES) was performed and revealed a dual diagnosis of glutaric aciduria III (GA III) and BCAP31-related disorder, an X-linked intellectual disability syndrome, caused by a novel pathogenic variant.
UNASSIGNED: GA III has historically been considered clinically benign, with few reported cases. This patient\'s presenting symptoms were similar to those commonly seen in GA I and GA II, however the biochemical abnormalities were not consistent with these disorders, prompting additional molecular and biochemical testing. Ultimately, WES confirmed a diagnosis of BCAP31-related syndrome, a rare neurological disorder, which explained the patient\'s presenting symptoms. WES also identified a secondary diagnosis of GA III. We present a patient with two rare genetic conditions, highlighting the importance of deep phenotyping and the utility of WES in the setting of a patient with dual genetic diagnoses.

Cochlear implants can directly activate the auditory system\'s primary sensory neurons, the spiral ganglion neurons (SGNs), via circumvention of defective cochlear hair cells. This bypass restores auditory input to the brainstem. SGN loss etiologies are complex, with limited mammalian regeneration. Protecting and revitalizing SGN is critical. Tissue engineering offers a novel therapeutic strategy, utilizing seed cells, biomolecules, and scaffold materials to create a cellular environment and regulate molecular cues. This review encapsulates the spectrum of both human and animal research, collating the factors contributing to SGN loss, the latest advancements in the utilization of exogenous stem cells for auditory nerve repair and preservation, the taxonomy and mechanism of action of standard biomolecules, and the architectural components of scaffold materials tailored for the inner ear. Furthermore, we delineate the potential and benefits of the biohybrid neural interface, an incipient technology in the realm of implantable devices. Nonetheless, tissue engineering requires refined cell selection and differentiation protocols for consistent SGN quality. In addition, strategies to improve stem cell survival, scaffold biocompatibility, and molecular cue timing are essential for biohybrid neural interface integration.