A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family

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Early hearing loss and language abilities in children with Down syndrome

BACKGROUND: Although many children with Down syndrome experience hearing loss, there has been little research to investigate its impact on speech and language development. Studies that have investigated the association give inconsistent results. These have often been based on samples where children with the most severe hearing impairments have been excluded and so results do not generalize to the wider population with Down syndrome. Also, measuring children's hearing at the time of a language assessment does not take into account the fluctuating nature of hearing loss in children with Down syndrome or possible effects of losses in their early years. AIMS: To investigate the impact of early hearing loss on language outcomes for children with Down syndrome. METHODS & PROCEDURES: Retrospective audiology clinic records and parent report for 41 children were used to categorize them as either having had hearing difficulties from 2 to 4 years or more normal hearing. Differences between the groups on measures of language expression and comprehension, receptive vocabulary, a narrative task and speech accuracy were investigated. OUTCOMES & RESULTS: After accounting for the contributions of chronological age and nonverbal mental age to children's scores, there were significant differences between the groups on all measures. CONCLUSIONS & IMPLICATIONS: Early hearing loss has a significant impact on the speech and language development of children with Down syndrome. Results suggest that speech and language therapy should be provided when children are found to have ongoing hearing difficulties and that joint audiology and speech and language therapy clinics could be considered for preschool children.

Prevalence and risk factors for mild and high-frequency bilateral sensorineural hearing loss at age 11 years old:a UK prospective cohort study

OBJECTIVE: This study aimed to assess prevalence and risk factors for mild/high-frequency bilateral sensorineural hearing loss within a UK population of children at age 11 years. DESIGN: Prospective birth cohort study. STUDY SAMPLE: Repeat hearing thresholds were measured in 5032 children, as part of the Avon Longitudinal Study of Parents and Children (ALSPAC) at age 7, 9, and 11 years. Pregnancy, birth, and early medical history were obtained prospectively through parental questionnaires and medical records. RESULTS: Twenty children had mild and seven had high-frequency bilateral sensorineural hearing loss, giving a combined prevalence of 0.5% (95% CI 0.4-0.8%). These children were more likely than the rest of the study sample to have been admitted to hospital at 6-18 months (OR 2.7, 95% CI 1.00-7.30). Parents of these children were more likely to have suspected a hearing problem when the children were 3 years old (OR 2.4, 95% CI 1.05-5.60). CONCLUSIONS: This is the first UK prospective cohort study to investigate the prevalence of mild and high-frequency hearing loss. This study, which has the advantage of a large sample size and repeat hearing measures over a four year period, reports lower prevalence values than US cross-sectional studies.

Binang gurri: turning a deaf ear to indigenous hearing loss

Objective: This paper asks whether Indigenous health policies might be improved if governments listened to Indigenous voices, both Australian and those who drafted the Declaration on the Rights of Indigenous Peoples, 2007. Methods: A fundamental tenet of the Declaration, which Australia endorsed in 2009, is respect for Indigenous knowledge and voice. The author analyses legal, cultural and historical sources for evidence of this respect. The metaphorical and empirical framework of the analysis is the epidemic of otitis media among Indigenous children. Results: A survey of Indigenous advice about health clearly demonstrates that access to their land and respect for the diversity of Indigenous cultures should inform health policies. Despite, however, claiming to consult Indigenous peoples, policy-makers have not been listening. In many Indigenous languages not listening, or ‘bad ears’, has connotations of disrespect. Conclusions: By turning a deaf ear to Indigenous knowledge governments are undermining any respect Indigenous peoples may have for them and their policies. A new approach is needed. Implications: The Declaration on the Rights of Indigenous Peoples can provide federal, state and territory governments with benchmarks against which health policy can be developed and implemented. Authentic consultation could restore Indigenous confidence in government policies.

Molecular genetics of Usher syndrome -inherited deafness and blindness

Usher syndrome (USH) is an inherited blindness and deafness disorder with variable vestibular dysfunction. The syndrome is divided into three subtypes according to the progression and severity of clinical symptoms. The gene mutated in Usher syndrome type 3 (USH3), clarin 1 (CLRN1), was identified in Finland in 2001 and two mutations were identified in Finnish patients at that time. Prior to this thesis study, the two CLRN1 gene mutations were the only USH mutations identified in Finnish USH patients. To further clarify the Finnish USH mutation spectrum, all nine USH genes were studied. Seven mutations were identified: one was a previously known mutation in CLRN1, four were novel mutations in myosin VIIa (MYO7A) and two were a novel and a previously known mutation in usherin (USH2A). Another aim of this thesis research was to further study the structure and function of the CLRN1 gene, and to clarify the effects of mutations on protein function. The search for new splice variants resulted in the identification of eight novel splice variants in addition to the three splice variants that were already known prior to this study. Studies of the possible promoter regions for these splice variants showed the most active region included the 1000 bases upstream of the translation start site in the first exon of the main three exon splice variant. The 232 aa CLRN1 protein encoded by the main (three-exon) splice variant was transported to the plasma membrane when expressed in cultured cells. Western blot studies suggested that CLRN1 forms dimers and multimers. The CLRN1 mutant proteins studied were retained in the endoplasmic reticulum (ER) and some of the USH3 mutations caused CLRN1 to be unstable. During this study, two novel CLRN1 sequence alterations were identified and their pathogenicity was studied with cell culture protein expression. Previous studies with mice had shown that Clrn1 is expressed in mouse cochlear hair cells and spiral ganglion cells, but the expression profile in mouse retina remained unknown. The Clrn1 knockout mice display cochlear cell disruption/death, but do not have a retinal phenotype. The zebrafish, Danio rerio, clrn1 was found to be expressed in hair cells associated with hearing and balance. Clrn1 expression was also found in the inner nuclear layer (INL), photoreceptor layer and retinal pigment epithelium layer (RPE) of the zebrafish retina. When Clrn1 production was knocked down with injected morpholino oligonucleotides (MO) targeting Clrn1 translation or correct splicing, the zebrafish larvae showed symptoms similar to USH3 patients. These larvae had balance/hearing problems and reduced response to visual stimuli. The knowledge this thesis research has provided about the mutations in USH genes and the Finnish USH mutation spectrum are important in USH patient diagnostics. The extended information about the structure and function of CLRN1 is a step further in exploring USH3 pathogenesis caused by mutated CLRN1 as well as a step in finding a cure for the disease.

Speech intelligibility in noise-induced hearing loss: effects of high-frequency compensation

This dissertation examines the frequency response that results in the maximum level of speech intelligibility for persons with noise-induced hearing loss.

The comparison of vestibular functions in hearing and hearing impaired populations

This study investigates possible vestibular dysfunctions in the deaf using a typical clinical assessment battery and discerns whether there is a trend between these disorders in meningitic children as compared to children with unknown origins of deafness.

Effect of amplification bandwidth on intelligibility of several different speech samples for a listener with sensorineural hearing loss

This paper examines the effect of amplification bandwidth on speech intelligibility using multiple speech samples.

Noise levels and hearing conservation in a water treatment facility

This paper describes a study assessing the sound levels and noise exposures of a municipal water treatment plant to determine the level of employee noise exposure dosages and to make any necessary recommendations regarding reducing the risk of noise induced hearing loss in employees.

Effect of auditory processing on the preference of monaural amplification for adults with symmetrical hearing loss

The purpose of this project was to determine if subjects with symmetrical hearing loss who prefer a monaural hearing aid fit to a binaural hearing aid fit may demonstrate an auditory processing disorder causing them to experience binaural interference when fit binaurally.

An exploration of the role of narrative skills in higher-level reading comprehension of teenagers with hearing loss

This Study examines the relationship between scores on adolescents’ self-generated narratives and standardized reading-comprehension scores. This relationship is also compared with the more simple language metrics: vocabulary and syntax.

Role of alpha synuclein in noise induced hearing loss

The recent discovery of the contribution of alpha synuclein in the auditory system prompted further investigation of its functional role. Auditory brainstem response (ABR) and gap detection testing were completed on wild-type and transgenic M83 mice to assess the role of alpha synuclein in noise-induced hearing loss and central auditory function.

Implications of newborn hearing screening: counseling parents of newborns with hearing loss

This paper reviews parental reactions to their newborn newly diagnosed with a hearing loss.

Newborn hearing screening: examining the presence of risk factors for hearing loss

This paper identifies risk factors associated with hearing loss in newborns, including family history, craniofacial abnormalities, and ototoxic medications.

The role of pediatrician in hearing loss: from detection to connection

This paper presents a study investigating how informed pediatricians are about hearing loss and their ability to assist and refer parents of children with hearing loss.