Sensorineural hearing loss

Hearing acuity and sound localization are affected by aging and may contribute to cognitive dementias. Although loss of sensorineural conduction is well documented to occur with age, little is known regarding short-term synaptic plasticity in central auditory nuclei. Age-related changes in synaptic transmission properties were evaluated at the mouse calyx of Held, a sign-inverting relay synapse in the circuit for sound localization, in juvenile adults (1 month old) and late middle-aged (18-21 months old) mice...

RATIONALE: Children with unilateral deafness could have concurrent vestibular dysfunction which would be associated with balance deficits and potentially impair overall development. The prevalence of vestibular and balance deficits remains to be defined in these children. METHODS: Twenty children with unilateral deafness underwent comprehensive vestibular and balance evaluation. RESULTS: Retrospective review revealed that more than half of the cohort demonstrated some abnormality of the vestibular end organs (otoliths and horizontal canal), with the prevalence of end organ specific dysfunction ranging from 17 to 48% depending on organ tested and method used...

: Cockayne syndrome (CS) is a rare autosomal recessive syndrome resulting in defective DNA repair. Its features include cachectic dwarfism, hearing loss, skin hypersensitivity to sunlight, premature aging, and dementia. Presented is a right temporal bone of a patient who died at the age of 29 years. The clinical course was compatible with type 1 CS, the classical form. Homozygous missense variant in the ERCC6 gene (Excision Repair Cross-Complementation group 6) was found, compatible with CS complementation group B...

Psoriasis is a systemic inflammatory disorder associated with many other chronic and progressive diseases. There are few studies on the association of psoriasis with alterations in auditory function. A clinical and instrumental pilot study of auditory function was performed with 77 psoriatic patients and 77 age- and sex-matched healthy controls. The main results were: (i) hearing loss, mostly of sensorineural type, was significantly more frequent in patients than in controls; (ii) conductive and mixed hearing loss were more frequent in arthropathic than in non-arthropathic psoriatic patients; (iii) duration of psoriasis > 10 years or smoking were associated with higher frequency of hearing loss; (iv) psoriasis was more severe in patients with hearing loss than in those without hearing loss...

BACKGROUND/AIMS: Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. METHODS: A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three candidate genes. RESULTS: Pathogenic mutations, including six novel mutations, were detected in 15 (88...

A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus...

BACKGROUND AND PURPOSE: Cavitary plaques have been reported as a manifestation of otospongiosis. They have been related to third window manifestations, complications during cochlear implantation, and sensorineural hearing loss. However, their etiology and clinical implications are not entirely understood. Our purpose was to determine the prevalence, imaging findings, and clinical implications of cavitary plaques in otospongiosis. MATERIALS AND METHODS: We identified patients with otospongiosis at a tertiary care academic medical center from January 2012 to April 2017...

Evaluation of middle ear function in infants is the key to distinguish sensorineural hearing loss and conductive hearing loss, and acoustic immittance test is the routine audiological evaluation of middle ear function.Because of the characteristics of middle ear in infants, middle ear examination parameters of adults are not suitable for infants. This article reviewd the current multiple acoustic immittance methods for detecting middle ear function in infants, and summarized the advantages and disadvantages of these methods...

Objective: To explore the effects of bimodal intervention on the development of auditory and speech ability in the infants with unilateral cochlear implantation(CI). Methods: Total 35 bilateral profound sensorineural hearing loss infants with unilateral CI, aged 0.7 to 2.8 years old, were selected. The subjects were divided into two groups: the group with unilateral CI(cochlear implant alone, n = 15), and the bimodal group with CI and contralateral fitting hearing aid( n = 20). Their auditory and speech abilities were estimated at the different time points after switch-on(the 0th, 0...

AIMS: The frequency of the use of intratympanic steroids (ITS) as a treatment for idiopathic sudden sensorineural hearing loss (ISSNHL) in Europe is still unknown and remains a contentious issue amongst otolaryngologists. We undertook a survey of otolaryngologists in Germany and Austria to establish if there is any professional consensus with which to form a protocol for its use. METHODS: A survey of 21 questions was distributed electronically to otolaryngologists in Germany and Austria and data on demographics, indications for intratympanic treatment, procedure, follow-up, and outcomes were analysed...

OBJECTIVE: To evaluate the efficacy of antiviral treatment for infants with congenital cytomegalovirus (cCMV) with isolated sensorineural hearing loss (SNHL). STUDY DESIGN: Data were reviewed retrospectively for infants with isolated SNHL who received prolonged antiviral treatment between 2005 and 2017. Hearing status was evaluated for infants who had been followed for >1 year. RESULTS: Among 329 infants treated for cCMV, 59 (18%) were born with isolated SNHL...

BACKGROUND: Recent studies have confirmed the utility of targeted next-generation sequencing (NGS), providing a remarkable opportunity to find variants in known disease genes, especially in genetically heterogeneous disorders such as hearing loss (HL). METHODS: After excluding mutations in the most common autosomal recessive non-syndromic HL (ARNSHL) genes via Sanger sequencing and genetic linkage analysis, we performed NGS in the proband an Iranian family with ARNSHL...

OBJECTIVE: To evaluate the clinically relevant abnormalities as visualized on CT and MR imaging in children with symmetric and asymmetric bilateral sensorineural hearing loss (SNHL), in relation to age and the severity of hearing loss. STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary referral otology and audiology center. PATIENTS AND DIAGNOSTIC INTERVENTIONS: From January 2006 until January 2016, a total of 207 children diagnosed with symmetric and asymmetric bilateral SNHL were included...

Next generation sequencing (NGS), such as targeted panel sequencing, whole-exome sequencing and whole-genome sequencing has led to an exponential increase of elucidated genetic causes in both rare diseases, and common but heterogeneous disorders. NGS is applied in both research and clinical settings, and the clinical exome sequencing (CES), which provides not only the sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to a genetic diagnosis. Usher syndrome is a group of disorders, characterized by bilateral sensorineural hearing loss, with or without vestibular dysfunction and retinitis pigmentosa...

OBJECTIVE: Hearing loss caused by mutation of mitochondrial DNA typically develops in late childhood or early adulthood, but rarely in infancy. We report the investigation of a patient to determine the cause of his early onset hearing loss. MATERIALS AND METHODS: The proband was a boy aged 1 year and 2 months at presentation. Newborn hearing screening test by automated auditory brainstem response generated "pass" results for both ears. His reaction to sound deteriorated by 9 months...

INTRODUCTION: Labyrinthine fistula is one of the most common complications associated with cholesteatoma. It represents an erosive loss of the endochondral bone overlying the labyrinth. Reasons for cholesteatoma-induced labyrinthine fistula are still poorly understood. OBJECTIVE: Evaluate patients with cholesteatoma, in order to identify possible risk factors or clinical findings associated with labyrinthine fistula. Secondary objectives were to determine the prevalence of labyrinthine fistula in the study cohort, to analyze the role of computed tomography and to describe the hearing results after surgery...

Cochlear synaptopathy, i.e. the loss of auditory-nerve connections with cochlear hair cells, is seen in aging, noise damage, and other types of acquired sensorineural hearing loss. Because the subset of auditory-nerve fibers with high thresholds and low spontaneous rates (SRs) is disproportionately affected, audiometric thresholds are relatively insensitive to this primary neural degeneration. Although suprathreshold amplitudes of wave I of the auditory brainstem response (ABR) are attenuated in synaptopathic mice, there is not yet a robust diagnostic in humans...

INTRODUCTION: In the last decade numerous hospitals have started to work with patients who are candidates for a cochlear implant (CI) and there have been numerous and relevant advances in the treatment of sensorineural hearing loss that extended the indications for cochlear implants. OBJECTIVES: To provide a guideline on cochlear implants to specialists in otorhinolaryngology, other medical specialities, health authorities and society in general. METHODS: The Scientific Committees of Otology, Otoneurology and Audiology from the Spanish Society of Otolaryngology and Head and Neck Surgery (SEORL-CCC), in a coordinated and agreed way, performed a review of the current state of CI based on the existing regulations and in the scientific publications referenced in the bibliography of the document drafted...

PurposeHereditary hearing loss is highly heterogeneous. To keep up with rapidly emerging disease-causing genes, we developed the AUDIOME test for nonsyndromic hearing loss (NSHL) using an exome sequencing (ES) platform and targeted analysis for the curated genes.MethodsA tiered strategy was implemented for this test. Tier 1 includes combined Sanger and targeted deletion analyses of the two most common NSHL genes and two mitochondrial genes. Nondiagnostic tier 1 cases are subjected to ES and array followed by targeted analysis of the remaining AUDIOME genes...

Introduction: Sudden sensorineural hearing loss (SSNHL) is an important otological emergency. Up to 90% of the cases are idiopathic. Cerebral venous thrombosis (CVT) is an extremely rare identifiable cause as it only represents 0.5% of all strokes. Case Report: In this paper, an unusual case of bilateral SSNHL secondary to bilateral CVT with rapid and complete recovery is reported. The patient presented with sudden bilateral hearing loss associated with some neurological symptoms...