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Medecine Sciences : M/S May 2021Neonatal hearing screening has been developped in a large number of countries. The rational to build such nationwide programs is robust. The prevalence of hearing...
Neonatal hearing screening has been developped in a large number of countries. The rational to build such nationwide programs is robust. The prevalence of hearing impairment of various etiologies is high (1/1,000), diagnosis of hearing impairment in infants is uneasy and is made most of the time after the age of 18 months when treatment is less efficient and, last, appropriate test to screen for hearing impairment are available: Otoacoustic Emission and Auditory Evoked Potential. In France the screening is organised at the regional level. The organization of such a program is complexe. Midwifes and nurses should be trained to informed the parents and to perform the test. If the test is abnormal the infant will be oriented to a specialzed department of pediatrics for appropriate diagnosis and treatment.
Topics: Child; Evoked Potentials, Auditory, Brain Stem; Hearing Loss; Hearing Tests; Humans; Infant; Infant, Newborn; Neonatal Screening; Otoacoustic Emissions, Spontaneous
PubMed: 34003098
DOI: 10.1051/medsci/2021064 -
Nature Reviews. Neurology Mar 2016Sensorineural hearing impairment is the most common form of hearing loss, and encompasses pathologies of the cochlea and the auditory nerve. Hearing impairment caused by... (Review)
Review
Sensorineural hearing impairment is the most common form of hearing loss, and encompasses pathologies of the cochlea and the auditory nerve. Hearing impairment caused by abnormal neural encoding of sound stimuli despite preservation of sensory transduction and amplification by outer hair cells is known as 'auditory neuropathy'. This term was originally coined for a specific type of hearing impairment affecting speech comprehension beyond changes in audibility: patients with this condition report that they "can hear but cannot understand". This type of hearing impairment can be caused by damage to the sensory inner hair cells (IHCs), IHC ribbon synapses or spiral ganglion neurons. Human genetic and physiological studies, as well as research on animal models, have recently shown that disrupted IHC ribbon synapse function--resulting from genetic alterations that affect presynaptic glutamate loading of synaptic vesicles, Ca(2+) influx, or synaptic vesicle exocytosis--leads to hearing impairment termed 'auditory synaptopathy'. Moreover, animal studies have demonstrated that sound overexposure causes excitotoxic loss of IHC ribbon synapses. This mechanism probably contributes to hearing disorders caused by noise exposure or age-related hearing loss. This Review provides an update on recently elucidated sensory, synaptic and neural mechanisms of hearing impairment, their corresponding clinical findings, and discusses current rehabilitation strategies as well as future therapies.
Topics: Animals; Auditory Pathways; Cochlear Nerve; Hair Cells, Auditory, Inner; Hearing Loss; Hearing Loss, Central; Humans; Synapses
PubMed: 26891769
DOI: 10.1038/nrneurol.2016.10 -
Molecular Therapy : the Journal of the... Apr 2023Gene therapy focuses on genetic modification to produce therapeutic effects or treat diseases by repairing or reconstructing genetic material, thus being expected to be... (Review)
Review
Gene therapy focuses on genetic modification to produce therapeutic effects or treat diseases by repairing or reconstructing genetic material, thus being expected to be the most promising therapeutic strategy for genetic disorders. Due to the growing attention to hearing impairment, an increasing amount of research is attempting to utilize gene therapy for hereditary hearing loss (HHL), an important monogenic disease and the most common type of congenital deafness. Several gene therapy clinical trials for HHL have recently been approved, and, additionally, CRISPR-Cas tools have been attempted for HHL treatment. Therefore, in order to further advance the development of inner ear gene therapy and promote its broad application in other forms of genetic disease, it is imperative to review the progress of gene therapy for HHL. Herein, we address three main gene therapy strategies (gene replacement, gene suppression, and gene editing), summarizing the strategy that is most appropriate for particular monogenic diseases based on different pathogenic mechanisms, and then focusing on their successful applications for HHL in preclinical trials. Finally, we elaborate on the challenges and outlooks of gene therapy for HHL.
Topics: Humans; Deafness; Hearing Loss; Genetic Therapy; Gene Editing
PubMed: 36755494
DOI: 10.1016/j.ymthe.2023.02.001 -
Genes May 2022The inner ear is a complex structure at the cellular and molecular levels [...].
The inner ear is a complex structure at the cellular and molecular levels [...].
Topics: Ear, Inner; Hearing Loss; Humans
PubMed: 35627237
DOI: 10.3390/genes13050852 -
Journal of Neurology Nov 2016Hearing deficits associated with cognitive impairment have attracted much recent interest, motivated by emerging evidence that impaired hearing is a risk factor for... (Review)
Review
Hearing deficits associated with cognitive impairment have attracted much recent interest, motivated by emerging evidence that impaired hearing is a risk factor for cognitive decline. However, dementia and hearing impairment present immense challenges in their own right, and their intersection in the auditory brain remains poorly understood and difficult to assess. Here, we outline a clinically oriented, symptom-based approach to the assessment of hearing in dementias, informed by recent progress in the clinical auditory neuroscience of these diseases. We consider the significance and interpretation of hearing loss and symptoms that point to a disorder of auditory cognition in patients with dementia. We identify key auditory characteristics of some important dementias and conclude with a bedside approach to assessing and managing auditory dysfunction in dementia.
Topics: Dementia; Hearing Loss; Humans
PubMed: 27372450
DOI: 10.1007/s00415-016-8208-y -
BMJ Clinical Evidence Mar 2015Ear wax only becomes a problem if it causes a hearing impairment or other ear-related symptoms. Ear wax is more likely to accumulate and cause a hearing impairment when... (Review)
Review
INTRODUCTION
Ear wax only becomes a problem if it causes a hearing impairment or other ear-related symptoms. Ear wax is more likely to accumulate and cause a hearing impairment when normal extrusion is prevented; for example, by the use of hearing aids, or by the use of cotton buds to clean the ears. Ear wax can visually obscure the ear drum, and may need to be removed for diagnostic purposes.
METHODS AND OUTCOMES
We conducted a systematic review and aimed to answer the following clinical question: What are the effects of methods to remove ear wax? We searched: Medline, Embase, The Cochrane Library, and other important databases up to July 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA).
RESULTS
We found nine studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions.
CONCLUSIONS
In this systematic review we present information relating to the effectiveness and safety of the following interventions: ear irrigation (syringing); manual removal (other than ear irrigation); wax softeners prior to irrigation; and wax softeners alone.
Topics: Cerumen; Hearing Loss; Humans; Therapeutic Irrigation
PubMed: 25738938
DOI: No ID Found -
EBioMedicine Jan 2021Sensorineural hearing impairment is the most frequent form of hearing impairment affecting 1-2 in 1000 newborns and another 1 in 1000 adolescents. More than 50% of... (Review)
Review
Sensorineural hearing impairment is the most frequent form of hearing impairment affecting 1-2 in 1000 newborns and another 1 in 1000 adolescents. More than 50% of congenital hearing impairment is of genetic origin and some forms of monogenic deafness are likely targets for future gene therapy. Good progress has been made in clinical phenotyping, genetic diagnostics, and counselling. Disease modelling, e.g. in transgenic mice, has helped elucidate disease mechanisms underlying genetic hearing impairment and informed clinical phenotyping in recent years. Clinical management of paediatric hearing impairment involves hearing aids, cochlear or brainstem implants, signal-to-noise improvement in educational settings, speech therapy, and sign language. Cochlear implants, for example, have much improved the situation of profoundly hearing impaired and deaf children. Nonetheless there remains a major unmet clinical need for improving hearing restoration. Preclinical studies promise that we will witness clinical trials on gene therapy and a next generation of cochlear implants during the coming decade. Moreover, progress in generating sensory hair cells and neurons from stem cells spurs disease modelling, drug screening, and regenerative approaches. This review briefly summarizes the pathophysiology of paediatric hearing impairment and provides an update on the current preclinical development of innovative approaches toward improved hearing restoration.
Topics: Adolescent; Child; Child, Preschool; Clinical Decision-Making; Disease Management; Disease Susceptibility; Hearing Loss; Humans; Infant; Infant, Newborn; Precision Medicine
PubMed: 33422987
DOI: 10.1016/j.ebiom.2020.103171 -
Journal of Human Genetics Nov 2022Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations. Here we performed targeted genome sequencing of 227 hearing loss related...
Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations. Here we performed targeted genome sequencing of 227 hearing loss related genes in 1027 patients with bilateral hearing loss and 520 healthy volunteers with normal hearing to comprehensively identify the molecular etiology of hereditary hearing loss in a large cohort from China. We obtained a diagnostic rate of 57.25% (588/1027) for the patients, while 4.67% (48/1027) of the patients were identified with uncertain diagnoses. Of the implicated 35 hearing loss genes, three common genes, including SLC26A4(278/588), GJB2(207/588), MT-RNR1(19/588), accounted for 85.54% (503/588) of the diagnosed cases, while 32 uncommon hearing loss genes, including MYO15A, MITF, OTOF, POU3F4, PTPN11, etc. accounted for the remaining diagnostic rate of 14.46% (85/588). Apart from Pendred syndrome, other eight types of syndromic hearing loss were also identified. Of the 64 uncertain significant variants and 244 pathogenic/likely pathogenic variants identified in the patients, 129 novel variants were also detected. Thus, the molecular etiology presented with high heterogeneity with the leading causes to be SLC26A4 and GJB2 genes in the Chinese hearing loss population. It's urgent to develop a database of the ethnicity-matched healthy population as well as to perform functional studies for further classification of uncertain significant variants.
Topics: Humans; Connexin 26; Connexins; Hearing Loss; Deafness; High-Throughput Nucleotide Sequencing; China; Mutation; POU Domain Factors
PubMed: 35982127
DOI: 10.1038/s10038-022-01066-5 -
Genes Sep 2022Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory manifestations. Its main symptoms are high myopia, retinal... (Review)
Review
Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory manifestations. Its main symptoms are high myopia, retinal detachment, joint hypermobility, early osteoarthritis, cleft palate, midfacial hypoplasia, micrognathia and hearing loss. Large phenotypical variability is apparent and partly explained by the underlying genetic heterogeneity, including collagen genes (, , , , , ) and non-collagen genes (, , ). The most frequent type of Stickler syndrome () is characterized by a rather mild high-frequency sensorineural hearing loss in about half of the patients. - and -related Stickler syndrome results in more frequent hearing loss, being moderate and involving all frequencies. Hearing loss in the rarer types of Stickler syndrome depends on the gene expression in the cochlea, with moderate to severe downsloping hearing loss for Stickler syndrome caused by biallelic type IX collagen gene mutations and none or mild hearing loss for the non-collagen genes. Inherent to the orofacial manifestations, middle ear problems and temporary conductive hearing loss, especially at young age, are also prevalent. Consequently, hearing loss should be actively sought for and adequately treated in Stickler syndrome patients given its high prevalence and the concomitant visual impairment in most patients.
Topics: Arthritis; Collagen Type IX; Connective Tissue Diseases; Craniofacial Abnormalities; Deafness; Eye Diseases, Hereditary; Hearing Loss; Hearing Loss, Sensorineural; Humans; Mutation; Osteochondrodysplasias; Pedigree; Retinal Detachment
PubMed: 36140739
DOI: 10.3390/genes13091571 -
Scientific Reports Jan 2022There is a lack of studies assessing how hearing impairment relates to reproductive outcomes. We examined whether childhood hearing impairment (HI) affects reproductive...
There is a lack of studies assessing how hearing impairment relates to reproductive outcomes. We examined whether childhood hearing impairment (HI) affects reproductive patterns based on longitudinal Norwegian population level data for birth cohorts 1940-1980. We used Poisson regression to estimate the association between the number of children ever born and HI. The association with childlessness is estimated by a logit model. As a robustness check, we also estimated family fixed effects Poisson and logit models. Hearing was assessed at ages 7, 10 and 13, and reproduction was observed at adult ages until 2014. Air conduction hearing threshold levels were obtained by pure-tone audiometry at eight frequencies from 0.25 to 8 kHz. Fertility data were collected from Norwegian administrative registers. The combined dataset size was N = 50,022. Our analyses reveal that HI in childhood is associated with lower fertility in adulthood, especially for men. The proportion of childless individuals among those with childhood HI was almost twice as large as that of individuals with normal childhood hearing (20.8% vs. 10.7%). The negative association is robust to the inclusion of family fixed effects in the model that allow to control for the unobserved heterogeneity that are shared between siblings, including factors related to the upbringing and parent characteristics. Less family support in later life could add to the health challenges faced by those with HI. More attention should be given to how fertility relates to HI.
Topics: Adolescent; Age Factors; Aged; Audiometry, Pure-Tone; Auditory Threshold; Child; Family Characteristics; Female; Fertility; Hearing; Hearing Loss; Humans; Infertility, Female; Infertility, Male; Longitudinal Studies; Male; Middle Aged; Norway; Persons With Hearing Impairments; Reproduction; Reproductive Behavior; Risk Assessment; Risk Factors; Sex Factors; Time Factors
PubMed: 35013422
DOI: 10.1038/s41598-021-04195-7