Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger’s syndrome with successful hearing rehabilitation by cochlear implantation

Thiamine responsive megaloblastic anemia(TRMA),also known as Roger’s syndrome,is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests as the classic triad of megaloblastic anemia,sensorineural hearing loss,and diabetes mellitus.Here,we present the case of a one-and-a-half-year-old male infant born to non-consanguineous parents in India,a region where TRMA cases are seldom reported.At five months of age,the child exhibited the characteristic symptoms,prompting immediate treatment involving thiamine therapy,insulin administration,and blood transfusions.Notably,the child exhibited significant improvement in all aspects except for hearing loss,which conventional hearing aids failed to alleviate.However,following a cochlear implant procedure conducted within a few months,the child regained hearing abilities.This case underscores the importance of early recognition and intervention in the form of cochlear implant,demonstrating the potential to reverse TRMA symptoms and provide affected individuals with a substantially improved quality of life.

Safety and outcomes of cochlear implantation in the elderly:A review of recent literature

Global demographic changes related to longevity are leading to increasing numbers of the elderly, for whom hearing loss is a significant cause of morbidity and disability. Once met with reticence, severely hearing impaired older adults are increasingly being considered for cochlear implantation (CI). Significant data indicate that CI in the elderly population is safe, well-tolerated, and effective. Risks from CI surgery and anesthesia are low and generally comparable to rates in other age groups. Outcomes studies regarding CI in older adults have shown excellent improvements to speech perception, quality of life, and even cognition. Overall, currently available data suggests that advanced age should not, in itself, be considered a barrier to implantation. This review paper will highlight selected articles from recent medical literature regarding the safety and efficacy of CI in the elderly population. Copyright ? 2016, PLA General Hospital Department of Otolaryngology Head and Neck Surgery. Production and hosting by Elsevier (Singapore) Pte Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Assessment of outcomes of hearing and speech rehabilitation in children with cochlear implantation

Objectives:This study aimed to assess the effect of hearing and speech rehabilitation in patients with Nurotron■cochlear implants.Design:Ninety-eight paediatric patients with bilateral severe-to-profound sensorineural deafness who received cochlear implantation were divided into three groups according to age:group A(≤3 years),group B(4-7 years),and group C(8-16 years).All patients were followed up for one year for hearing and speech performance after the surgery.The comprehensive Auditory Perception Assessment,MAIS,CAP and SIR hearing and speech assessments and rating materials were used for assessment before the surgery and at 3,6,and 12 months after implant activation.Results:The scores of patients in the open-set speech assessment,Chinese Auditory Perception Assessment,MAIS,CAP and SIR significantly improved after cochlear implantation in all age groups.The younger the age at implantation,the better the results.Moreover,the hearing and speech performance of cochlear implant recipients gradually improved with the extension of rehabilitation time.Conclusions:Nurotron■Venus^TM cochlear implantation can improve the hearing and speech performance of patients with bilateral severe-to-profound sensorineural deafness.

After cochlear implantation: Complications related to flap around implants

Objective: To report complications related to flap around implants after cochlear implantation, possible causes of such complications and treatments. Methods and material:We performed a retrospective analysis of children in whom complications related to flap around implants occurred after undergoing cochlear implantation in our department from 2005 to 2016. Results:Complications among 1500 cochlear implantation (CI) recipients by the same surgeon included hematoma (n ? 20) and seroma around implants (n ? 15), of which most (n ? 10) recovered in 2 weeks after effective drainage, utility of antibiotics and pressure dressing, but 5 developed flap necrosis and had to undergo contralateral re-implantation. Four patients developed abscess around implants, of whom 2 recovered after 2 weeks of drainage, gentamicin irrigation and use of antibiotics, but 2 patients ended up with flap necrosis and had to receive contralateral reimplantation. Conclusions: Immediate drainage, pressure dressing and antibiotics can be used to effectively control seroma around implants. For seroma lasting for more than two weeks without improvement, surgical drainage may be need.

Cochlear implantation outcomes in children with common cavity deformity;a retrospective study

Objective: A common cavity deformity(CCD) is a deformed inner ear in which the cochlea and vestibule are confluent forming a common rudimentary cystic cavity that results in profound hearing loss. There are few studies paying attention to common cavity. Our group is engrossed in observing the improvement of auditory and verbal abilities in children who have received cochlear implantation(CI), and comparing these targets between children with common cavity and normal inner ear structure.Material and methods: A retrospective study was conducted in 12 patients with profound hearing loss that were divided into a common cavity group and a control group, six in each group matched in sex, age and time of implantation, based on inner ear structure. Categories of Auditory Performance(CAP) and speech intelligibility rating(SIR) scores and aided hearing thresholds were collected and compared between the two groups. All patients wore CI for more than 1 year at the Cochlear Center of Anhui Medical University from 2011 to 2015.Results: Postoperative CAP and SIR scores were higher than before operation in both groups(p < 0.05), although the scores were lower in the CCD group than in the control group(p < 0.05). The aided threshold was also lower in the control group than in the CCD group(p < 0.05).Conclusion: Even though audiological improvement in children with CCD was not as good as in those without CCD, CI provides benefits in auditory perception and communication skills in these children.

Cochlear implantation in a child with auditory neuropathy spectrum disorder

Objective To report outcomes of cochlear implantation (CI) in a child with auditory neuropathy spectrum disorder (ANSD) and to provide preliminary clinical evidence of the efficacy of CI in ANSD patients.Methods A 4-year-old boy with diagnosed auditory neuropathy spectrum disorder (ANSD) received implantation of a Nucleus CI24R after an unsatisfactory trial of amplification.Post-implantation performance in both hearing sensitivity and speech recognition was assessed in different sessions.Aided hearing thresholds were tested by behavioral audiometry.Mandarin Early Speech Perception Test (MESP),Meaningful Auditory Integration Scale (MAIS),category of auditory performance (CAP) and Speech Intelligibility Rating (SIR) were used to assess the benefits in auditory skills or speech recognition the boy obtained from CI.The tests were administered before surgery and at 3 months and 7 months after opening.Results The boy demonstrated improved auditory sensitivity by using CI.Concerning speech recognition and communication,both speech audiometry and questionnaires showed an obvious benefit from CI.Conclusions CI has worked efficiently in this ANSD boy.But because of limited understanding of ANSD and rehabilitation effect by cochlear implantation in this condition,the clinical decision to implant should be cautious and only after a thorough evaluation.Meanwhile,well controlled and long term studies are needed to confirm the efficacy of cochlear implantation in patients with ANSD.

Establishment of quantitative evaluation system for cochlear implant effectiveness for hearing-impaired children

Introduction:Cochlear implant is currently the most widely proven interventions for auditory rehabilitation for children with severe sensorineural hearing impairment.However,there are obvious limitations in these current evaluation methods.This study aims to develop an evaluation system for quantitatively evaluating the effectiveness of cochlear implants for hearing-impaired children.Methods:A correspondence questionnaire was developed based on an initial indicator system that was developed based on the literature focused on the evaluation of cochlear implant outcomes in children.Twenty-five experts in otology,clinical audiology,rehabilitation audiology,and mental health from nine provinces in China were consulted.The degree of authority and coordination of experts and the indicators and weights of the quantitative evaluation system were analyzed.Seventy-eight children aged 3–11 years after cochlear implantation were recruited from two centers in Hubei province to evaluate the reliability and validity of the quantitative evaluation system.Results:The opinions of experts converged after the second round of correspondence,and the coordination and authority of the expert consensus were met.The recall rate of the questionnaire was 100%for both rounds.Five secondary indicators,including auditory ability,verbal ability,behavioral assessment,learning capabilities,and quality of life,and 13 tertiary indicators were reserved for the evaluation of cochlear implant effectiveness.The weight of each indicator was calculated.The Cronbach’sαcoefficient of the quantitative evaluation system based on the standardized items was 0.930,and the three extracted common factors could explain 78.86%of the total variance.Conclusions:An expert consensus-based evaluation system that can quantitatively evaluate the effectiveness of cochlear implants in children has been developed with good reliability and validity.

Animal models of cochlear implant: Classification and update

Cochlear implantation(CI)is currently recognized as the most effective treatment for severe to profound sensorineural deafness and is considered one of the most successful neural prostheses.Since its inception in 1961,cochlear implantation has expanded its range of applications to encompass younger newborns,older people,and individuals with unilateral hearing loss.In addition,it has improved its surgical methods to minimize the occurrence of complications.Furthermore,notable advancements have been made in the design of electrodes,techniques for speech processing,and software for programming.Nevertheless,inflammation,fibrosis,and even ossification are observed in the cochlea of nearly all cochlear implant(CI)patients.These tissue responses might have a negative impact on the performance of the implants,residual hearing,and the results of post-operative CI rehabilitation.Animal models are significant translational tools that offer essential preclinical data for possible therapeutics.Thus,this study concentrates on the existing animal models used for cochlear implantation,highlights the advancements made in research,and offers insights into potential future research areas.

Double challenge:cochlear implantation in the only hearing ear with progressive hearing loss following meningitis and vestibular dysfunction after implantation

Objective:Vestibular dysfunction associated with cochlear implantation is rare.It is usually seen in patients with otosclerosis due to spread of electrical activity throughout the demineralized bone.A 17-year old female with progressive hearing loss 2 years after meningitis and vestibular dysfunction in the implanted ear is presented in this study.Findings:The patient had mild hearing loss in the right ear and total hearing loss on the left side because of complete ossification of the cochlea following meningitis.She had to have cochlear implantation in the right ear because of progression of hearing loss.She had successful implantation but she experienced vestibular dysfunction following activation of cochlear electrodes.Closure of two electrodes caused disruption of auditory programming.Then the patient was subjected to long term vestibular rehabilitation program.Conclusion:Timing for implantation before the completion of cochlear ossification is crucial not to miss the chance for hearing restoration.However,difficulties in hearing rehabilitation due to extensive ossification can be doubled by vestibular problems triggered by stimulation of the vestibular nerve by cochlear electrodes.Attempts to reduce the balance problem will complicate auditory programming.Vestibular rehabilitation for long term helps to carry on hearing progress.

Communication outcomes following cochlear implantation in a child with cystic cochleovestibular anomaly

Cochlear implantation is one of the best amongst the various management options available for children and adults with severe to profound sensorineural hearing loss.Inner ear and internal auditory canal(IAC) malformations accounts to approximately 25% of congenital sensorineural hearing loss in children.The primary goal of this report was to evaluate the communication outcomes after cochlear implantation in a child with cystic cochleovestibular anomaly(CCVA).The child was evaluated through various standardized outcome measures at regular intervals to track the progress in terms of auditory and spoken language skills.The scores on Categories of Auditory Perception(CAP),Meaningful Auditory Integration Scale(MAIS),Speech Intelligibility Rating(SIR),Meaningful Use of Speech Scale(MUSS),and listening and spoken language skills showed a significant leap in 12 months duration post implantation.The report thus highlights and correlates the significant progress in auditory and spoken language skills of the child with congenital malformations to appropriate auditory rehabilitation and intensive parental training.

Improvements to the retractor and muscle flap design for minimally invasive cochlear implantation

Objective: The aim of this study was to improve muscle flaps and to evaluate surgical outcomes with the use of a novel specialized retractor, which is a surgical instrument used to locate and shape a bony seat for minimally invasive cochlear implantation.Methods: 50 patients aged 1 e75 years with sensorineural hearing loss who required cochlear implantation were recruited. A small incision(<3 cm) was made, and the novel specialized retractor was used in the study group during cochlear implantation. The incision length, surgical outcomes and operative time were recorded and analyzed.Results: The incision length, total operative time and drilling bony time were shorter in the study group than in the control group(P < 0.05, respectively). All patients recovered well after the surgery without any severe complications.Conclusion: The use of a novel specialized retractor standardized the surgical processes of cochlear implantation. The retractor helped locate and control the size of the bony well during bone drilling. The tool reduced the technical difficulty and improved the efficacy of this minimally invasive operation.

Molecular mechanisms and roles of inflammatory responses on low-frequency residual hearing after cochlear implantation

Preservation of low-frequency residual hearing is very important for combined electro-acoustic stimulation after cochlear implantation.However,in clinical practice,loss of low-frequency residual hearing often occurs after cochlear implantation and its mechanisms remain unclear.Factors affecting lowfrequency residual hearing after cochlear implantation are one of the hot spots in current research.Inflammation induced by injury associated with cochlear implantation is deemed to be significant,as it may give rise to low-frequency residual hearing loss by interfering with the blood labyrinth barrier and neural synapses.Pathological changes along the pathway for low-frequency auditory signals transmission may include latent factors such as damage to neuroepithelial structures,synapses,stria vascularis and other ultrastructures.In this review,current research on mechanisms of low-frequency residual hearing loss after cochlear implantation and possible roles of inflammatory responses are summarized.

The role of cochlear implantation in alleviating Tumarkin drop attacks of Meniere's disease;a case report

Ménière’s disease(MD)patients may suffer episodes of sudden falls,named Tu markin drop attacks(DAs).This fall occurs abruptly and without warning or loss of consciousness.DAs usually aggravate the clinical picture of MD and are challenging to manage.The present report describes a case treated by cochlear implantation(CI)due to concomitant deafness and offers some clinical considerations for this condition.A male patient aged 48 years with a 10-year history of definite bilateral MD had profound SNHL on the right and severe SNHL on the left side.He suffered from intermittent attacks of vertigo,ear fullness,and tinnitus and,in the last year,had developed DAs and experienced 14 episodes in the previous six months.The preoperative category of acoustic performance was 3.The Dizziness Handicap Inventory(DHI)questionnaire showed a total score of 46,which indicated a moderate degree of disability.A CI was planned for the right side.The patient did not report any further DAs episode for two years since then.The postoperative category of acoustic performance became 11,and the postoperative DHI questionnaire showed a decrease in the total score(from 46 to 19),which indicated a mild disability.Unilateral CI effectively alleviated the DAs associated with bilateral MD.Our report proposes a new modality for managing vertiginous symptoms in cases of MD with hearing loss without the need for more aggressive surgical interventions with the need for clinical trials to confirm our results.

Analysis of the Influence of Sound Source Position and Electrode Placement on the Stimulation Pattern of the Cochlear Implant under Noise Conditions: Optimization of Auditory Perceptual Effects

Background: Cochlear implants (CI) are widely used to restore hearing in people with severe to profound hearing loss. However, optimizing CI performance, especially in difficult listening environments with background noise, remains a major challenge. Understanding the influence of factors such as sound source position and electrode placement on CI stimulation patterns is critical to improving auditory perception. Methods: In this study, an analysis was conducted to investigate the influence of sound source position and electrode placement on CI stimulation patterns under noisy conditions. For this purpose, a special measurement setup with a CI speech processor-microphone test box was used to simulate realistic listening scenarios and measure CI performance. Results: The results show that the effectiveness of CI noise reduction systems is influenced by factors such as the position of the sound source and electrode placement. In particular, the beamforming ultra zoom mode showed significantly better noise reduction than the omnidirectional mode, especially under real listening conditions. Furthermore, differences in electrode responses indicate individual variability in the CI user experience, highlighting the importance of personalized fitting algorithms. Conclusions: The results demonstrate the importance of considering environmental factors and individual differences when optimizing CI performance. Future research efforts should focus on the development of personalized fitting algorithms and the exploration of innovative strategies, such as the integration of artificial intelligence, to improve CI functionality in different listening environments. This study contributes to our understanding of CI stimulation patterns and lays the foundation for improving auditory perception in CI users.

Comparing accuracy of cochlear measurements on magnetic resonance imaging and computed tomography:A step towards radiation-free cochlear implantation

Objective:Computed Tomography(CT)and Magnetic Resonance Imaging(MRI)are commonly employed in pre-operative evaluation for cochlear implant surgery.However,with a decrease in the age of implantation,even minor radiation exposure can cause detrimental effects on children over their lifetime.The current study compares different cochlear measurements from CT and MRI scans and evaluates the feasibility of using only an MRI scan for radiological evaluation before cochlear implantation.Methods:A longitudinal observational study was conducted on 94 ears/47 children,employing CT and MRI scans.The CT and MRI scan measurements include,A value,B value,Cochlear duct length(CDL),twoturn cochlear length,alpha and beta angles to look for cochlear orientation.Cochlear nerve diameter was measured using MRI.The values were compared.Results:The mean difference between measurements from CT and MRI scans for A value,B value,CDL,and two-turn cochlear length values was 0.567±0.413 mm,0.406±0.368 mm,2.365±1.675 mm,and 2.063±1.477 mm respectively without any significant difference.The alpha and beta angle measures were comparable,with no statistically significant difference.Conclusion:The study suggests that MRI scans can be the only radiological investigation needed with no radiation risk and reduces the cost of cochlear implant program in the paediatric population.There is no significant difference between the measurements obtained from CT and MRI scans.However,observed discrepancies in cochlear measurements across different populations require regionally or race-specific standardized values to ensure accurate diagnosis and precision in cochlear implant surgery.This aspect must be addressed to ensure positive outcomes for patients.

The Influence of Sound Deprivation on Audiologic Outcomes after Cochlear Implantation

The cochlear implant is a prosthesis that is capable to replace listening capability among patients with sensorineural hearing loss. Many studies suggest a negative relationship among duration of sound deprivation and audiometric gain (by means of speech perception test) after cochlear implantation. We evaluated surgical and audiologic results among post-lingual deafened adults, in different times of sound deprivation, and correlated with social isolation, presence of vertigo or tinnitus, and the speech therapy yield, between pre- and post-operative stages. A retrospective study was conducted on patients with post-lingual hearing loss, aged over 18 years old who underwent cochlear implant surgery in a public hospital from 2004 to 2014. Audiological, socio-demographic questionnaire, and manifestations of vertigo and tinnitus, during pre- and post-operative stages, were compared and correlating to the different periods of sound deprivation. Two groups were studied. The group A was composed of 38 participants (14 male and 24 female) with sound deprivation of less than 10 years;and group B was composed of 17 participants (8 male and 9 female) with sound deprivation longer than 10 years. We found no differences regarding age, sex, duration of sound deprivation, mean pure-tone audiometric results (pre- and post-surgery), and speech perception tests (pre-operatively). After one year of the surgery, we observed a significant difference between both groups, with a better performance to group A. The results of speech perception test, after cochlear implantation in group B, were worse than the results obtained in group A, although these correlations are not determinant whether to perform cochlear implant surgery or not.

Cochlear Implantation in Patients with Eosinophilic Otitis Media

It is known that cochlear implantation for deaf patients with eosinophilic otitis media (EOM) is safe and can provide good speech perception. However, the best timing of implant surgery in patients with EOM is not yet known. The aim of this case report is to suggest the appropriate timing of the surgery in EOM patients with deaf. Cochlear implantation was indicated in two patients with EOM. One underwent cochlear implantation in the absence of any ear discharge. In the other case, implant surgery was delayed for three years due to persistent ear discharge. No complications related to implant device or skin flap were observed in either case. The speech recognition score after implantation was good in the first case and poor in the second case. Perioperative complications were manageable even in the patient with persistent ear discharge. However, the delay in implant surgery due to the persistent ear discharge resulted in a poor speech recognition score. Early implantation should be considered even in EOM patients with ear discharge, although the presence of active middle ear inflammation is regarded as one of the contraindications for implantation according to the current Japanese guidelines.

Evaluation of rehabilitation outcomes after cochlear implantation in later-implanted patients with prelingual deafness

Objective:To identify the changes in the quality of life and speech recognition ability of older pre-lingual deaf patients before and after cochlear implant surgery.Methods:A total of patients with pre-linguistic deafness who underwent unilateral cochlear implant surgery at the Sun Yat-sen Memorial Hospital of Sun Yat-sen University from February 2012 to November 2018 were taken as the research object.The CAP scale,SIR scale,and Nijmegen cochlear implant scale were used to assess the patient's condition for the quality of life before and 2 years after the operation,and compared the postoperative and preoperative scores were compared.At the same time,the angel language training was adopted.The auditory rehabilitation system and the Chinese open speech perception assessment system were used to test the speech recognition rate of patients before and 2 years after implantation.Results:The quality of life of patients undergoing cochlear implant surgery improved two years after the operation.CAP,SIR scores and NCIQ sub-fields(basic voice perception,advanced voice perception,speech ability,self-confidence,activity ability,and social communication)were significantly improved compared with those preoperatively,and the speech recognitionrate score was also improved.There was a significant correlation between the quality of life and speech recognition of the test patients.Conclusion:Cochlear implantation has a significant effect on improving the quality of life and speech recognition ability of older pre-linguistic deaf patients.The correlation between quality of life and speech recognition still needs to be further explored.Therefore,-,quality of life and language recognition are the assessment of older pre-linguistic deafness.The rehabilitation effect of patients after cochlear implantation needs to be considered at the same time.

Stages of Emotional Experience of Parents of Children with Cochlear Implantation (CI)

Rehabilitation is a set of measures aimed at compensating or fully restoring the functions of the patient impaired by the disease. In the rehabilitation of children with a cochlear implant, a comprehensive, systematic approach is essential in the work of doctors, teachers, sign language teachers, psychologists, and families. Rehabilitation and social adaptation of children with a cochlear implant depend not only on specialists but also on the ability of parents to help the child organize educational activities in an optimistic mood and the ability to provide emotional support. This means that the role of parents in the way to successful rehabilitation is high, and therefore this topic is especially relevant today. .

Barriers to Early Pediatric Cochlear Implantation in Kenya

Background: Cochlear implantation is the best management option for children with profound hearing loss and has received no benefit from hearing aids. Early implantation for these children is associated with good speech and language outcomes. Objectives: To determine the barriers to early pediatric cochlear implantation. Methodology: A qualitative cross-sectional study was conducted at Hearing Implants Centre in Nairobi Kenya from August 2022 to February 2023. The target population was 40 children who had undergone cochlear implantation under the auspices of Cochlear Implant Group of Kenya but data was only collected from 30 of them. The remaining were ruled out because 3 were unreachable over the phone, 5 refused to participate and 2 did not meet the inclusion criteria. Results: Patient file reviews and parental telephone interviews were conducted to collect information and analyzed using Microsoft excel and presented using graphs, tables and pie charts. The analysis of the gender showed 46.67% were male and 53.33% were female. Analysis on newborn screening showed that none had it done. The mode age of hearing loss suspicion was between the ages of 2 - 3 years. The hearing loss suspicion done was done by the mothers at 20 children the reminder being 3 by the father, 1 by a family friend, 4 by the school-teacher and 2 by the child’s grandmother. A total of 17 participants noted a delayed in speech and language, 9 noted that the child did not respond to loud sounds, 4 noted that the children did not turn when called. Once hearing loss was identified, 73% saw the ENT, 17% saw a pediatrician, 7% went to see an Audiologist, and 3% saw a speech therapist. The mode age at diagnosis was 1.5 years. The mode age at implantation was 5 years. The mode time from diagnosis was 2 years. Conclusions: This study sought to investigate the barriers to pediatric cochlear implantation in Kenya. From the results it was determined that factors such as lack of newborn screening, high cost of cochlear implantation, lack of awareness have led to late cochlear implantation.