RESUMO
BACKGROUND: The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor cochlear implant (CI) performance. It was long thought that TMPRSS3 was particularly expressed in the SGNs. However, this is not in line with recent reviews evaluating CI performance in subjects with TMPRSS3-associated sensorineural hearing loss (SNHL) reporting overall beneficial outcomes. These outcomes are, however, based on variable follow-up times of, in general, 1 year or less. Therefore, we aimed to 1. evaluate long-term outcomes after CI implantation of speech recognition in quiet in subjects with TMPRSS3-associated SNHL, and 2. test the spiral ganglion hypothesis using the TMPRSS3-group. METHODS: This retrospective, multicentre study evaluated long-term CI performance in a Dutch population with TMPRSS3-associated SNHL. The phoneme scores at 70 dB with CI in the TMPRSS3-group were compared to a control group of fully genotyped cochlear implant users with post-lingual SNHL without genes affecting the SGN, or severe anatomical inner ear malformations. CI-recipients with a phoneme score ≤ 70% at least 1-year post-implantation were considered poor performers and were evaluated in more detail. RESULTS: The TMPRSS3 group consisted of 29 subjects (N = 33 ears), and the control group of 62 subjects (N = 67 ears). For the TMPRSS3-group, we found an average phoneme score of 89% after 5 years, which remained stable up to 10 years post-implantation. At both 5 and 10-year follow-up, no difference was found in speech recognition in quiet between both groups (p = 0.830 and p = 0.987, respectively). Despite these overall adequate CI outcomes, six CI recipients had a phoneme score of ≤ 70% and were considered poor performers. The latter was observed in subjects with residual hearing post-implantation or older age at implantation. CONCLUSION: Subjects with TMPRSS3-associated SNHL have adequate and stable long-term outcomes after cochlear implantation, equal to the performance of genotyped patient with affected genes not expressed in the SGN. These findings are not in line with the spiral ganglion hypothesis. However, more recent studies showed that TMPRSS3 is mainly expressed in the hair cells with only limited SGN expression. Therefore, we cannot confirm nor refute the spiral ganglion hypothesis.
Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Humanos , Estudos Retrospectivos , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/cirurgia , Resultado do Tratamento , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Proteínas de Neoplasias/genética , Serina Endopeptidases/genéticaRESUMO
OBJECTIVE: To evaluate the long-term ipsi- and contralateral hearing of patients with a unilateral enlarged vestibular aqueduct (EVA). STUDY DESIGN: Multicenter retrospective cohort study. SETTING: Three tertiary otology and audiology referral centers. PATIENTS AND DIAGNOSTIC INTERVENTIONS: A total of 34 children with a unilateral enlarged vestibular aqueduct as identified on CT and/or MR imaging were evaluated with pure tone and speech perception audiometry. MEAN OUTCOME MEASURES: Radiologic measurements of the vestibular aqueduct, ipsi- and contralateral hearing loss, ipsi- and contralateral hearing loss progression over time and DNA test results. RESULTS: All patients in this cohort with unilateral EVA presented with hearing loss. Hearing loss was progressive in 38% of the ipsilateral ears. In 29% of the children, hearing loss was also found in the contralateral ear without EVA. In 90%, the contralateral hearing was stable, with a mean follow up of 4.2 years. We found a significant correlation between the severity of the hearing loss and the size of the EVA. A genetic diagnosis associated with EVA and/or SNHL was found in only 7%. CONCLUSION: About a third of the children with unilateral EVA are at risk of developing hearing loss in the contralateral ear. This indicates that at least in some patients with a unilateral EVA, a bilateral pathogenic process underlies the hearing loss, in contrary to what the imaging results suggest. These findings are important for counseling of EVA patients and their parents and have implications for follow up.
Assuntos
Perda Auditiva Neurossensorial , Perda Auditiva , Aqueduto Vestibular , Criança , Perda Auditiva Neurossensorial/diagnóstico por imagem , Humanos , Estudos Retrospectivos , Aqueduto Vestibular/anormalidades , Aqueduto Vestibular/diagnóstico por imagemRESUMO
OBJECTIVE: To analyze the results of malleostapedotomy performed by applying the self-fixing and articulated titanium piston according to Häusler. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS AND INTERVENTIONS: This study concerns a retrospective analysis of the results of malleostapedotomy with the use of a self-fixing articulated titanium piston in 16 ears of 16 consecutively treated patients between 2005 and 2009. The medical files were used for the acquisition of data on medical and surgical history and to obtain pre- and postoperative audiometry. Diagnosis and outcomes of mainly revision surgeries are presented and compared to the literature. MAIN OUTCOME MEASURES: Effect of (revision) malleostapedotomy by evaluating postoperative audiometry and air-bone gap closure. RESULTS: The postoperative air-bone gap closure was ≤ 10 dB in 9/16 (56%) ears and within ≤ 20 dB in 13/16 (81%) ears. The mean postoperative air-bone gap was 14.3 dB HL (0.5-2.0 kHz) and 17.3 dB HL (0.5-4.0 kHz). Postoperatively, there was no increase in bone conduction thresholds larger than 3 dB (0.5-2.0 kHz) and postoperative dizziness was absent or very limited and transient. CONCLUSIONS: The malleostapedotomy procedure has become surgically less demanding over time by the technical improvements present in the nowadays available pistons. The design of the self-fixing and articulated titanium piston used in the present group of patients allows a safe and straight-forward malleostapedotomy procedure. Present hearing outcomes match with results presented in the literature.
Assuntos
Perda Auditiva/cirurgia , Martelo/cirurgia , Próteses e Implantes , Cirurgia do Estribo , Titânio , Adulto , Idoso , Audiometria , Condução Óssea , Feminino , Perda Auditiva/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Otosclerose/complicações , Otosclerose/cirurgia , Equilíbrio Postural , Desenho de Prótese , Reoperação , Estudos RetrospectivosRESUMO
This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, and is genetically and phenotypically highly heterogeneous. Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal dystrophy (FCD). However, up to now screening for FCD of heterozygous carriers in DFNB77 families has not been reported. This study describes the genotype and audiovestibular phenotype of 9 families with DFNB77. In addition, carriers within the families were screened for FCD. Fifteen pathogenic missense and truncating variants were identified, of which 12 were novel. The hearing phenotype showed high inter- and intrafamilial variation in severity and progression. There was no evidence for involvement of the vestibular system. None of the carriers showed (pre-clinical) symptoms of FCD. Our findings expand the genotypic and phenotypic spectrum of DFNB77, but a clear correlation between the type or location of the variant and the severity or progression of HI could not be established. We hypothesize that environmental factors or genetic modifiers are responsible for phenotypic differences. No association was found between heterozygous LOXHD1 variants and the occurrence of FCD in carriers.
Assuntos
Proteínas de Transporte/genética , Distrofia Endotelial de Fuchs/genética , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/genética , Adolescente , Adulto , Audiometria , Criança , Pré-Escolar , Feminino , Distrofia Endotelial de Fuchs/fisiopatologia , Estudos de Associação Genética , Genótipo , Perda Auditiva Neurossensorial/fisiopatologia , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , FenótipoRESUMO
OBJECTIVE: Genetic testing for hereditary hearing impairment has become more routinely available as a diagnostic tool in the outpatient clinic. However, little is known about the psychological impact of a genetic diagnosis. To evaluate this impact, an exploratory study was conducted. DESIGN: Prospectively, 48 individuals who underwent genetic testing for hereditary hearing impairment were included in this study. Study participants were asked to fill out the following questionnaires: Hospital Anxiety Depression Scale, Impact of Event Scale, Self-Efficacy 24, Illness Cognition Questionnaire and the Inventory for Social Reliance. Questionnaires were filled out on three occasions: before genetic testing, directly after counselling on either positive or negative test results, and six weeks thereafter. RESULTS: No significant differences were found between the group that received a genetic diagnosis for their hearing impairment and the group that did not. CONCLUSION: This study did not demonstrate differences between receiving a genetic diagnosis or not; however, special attention to psychological well-being should be offered to hearing-impaired patients who seek a genetic diagnosis for their hearing impairment. Additionally, the psychological impact of sensorineural hearing impairment might be greater than the impact of a genetic diagnosis itself. Based on the current exploratory study, there are no psychological reasons in favour of or against genetic testing for hereditary hearing impairment.
Assuntos
Ansiedade/psicologia , Depressão/psicologia , Testes Genéticos/ética , Perda Auditiva/diagnóstico , Adulto , Idoso , Ansiedade/epidemiologia , Ansiedade/etiologia , Depressão/epidemiologia , Depressão/etiologia , Feminino , Seguimentos , Perda Auditiva/genética , Perda Auditiva/psicologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Estudos Prospectivos , Inquéritos e QuestionáriosRESUMO
OBJECTIVES: Usher syndrome is the leading cause of hereditary deaf-blindness. Most patients with Usher syndrome type IIa start using hearing aids from a young age. A serious complaint refers to interference between sound localisation abilities and adaptive sound processing (compression), as present in today's hearing aids. The aim of this study was to investigate the effect of advanced signal processing on binaural hearing, including sound localisation. DESIGN AND PARTICIPANTS: In this prospective study, patients were fitted with hearing aids with a nonlinear (compression) and linear amplification programs. Data logging was used to objectively evaluate the use of either program. Performance was evaluated with a speech-in-noise test, a sound localisation test and two questionnaires focussing on self-reported benefit. RESULTS: Data logging confirmed that the reported use of hearing aids was high. The linear program was used significantly more often (average use: 77%) than the nonlinear program (average use: 17%). The results for speech intelligibility in noise and sound localisation did not show a significant difference between type of amplification. However, the self-reported outcomes showed higher scores on 'ease of communication' and overall benefit, and significant lower scores on disability for the new hearing aids when compared to their previous hearing aids with compression amplification. CONCLUSIONS: Patients with Usher syndrome type IIa prefer a linear amplification over nonlinear amplification when fitted with novel hearing aids. Apart from a significantly higher logged use, no difference in speech in noise and sound localisation was observed between linear and nonlinear amplification with the currently used tests. Further research is needed to evaluate the reasons behind the preference for the linear settings.
Assuntos
Auxiliares de Audição , Síndromes de Usher/terapia , Adulto , Audiometria , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Localização de Som , Inteligibilidade da Fala , Inquéritos e Questionários , Resultado do Tratamento , Síndromes de Usher/fisiopatologia , Adulto JovemRESUMO
OBJECTIVE: Non-syndromic sensorineural hearing impairment is inherited in an autosomal recessive fashion in 75-85% of cases. To date, 61 genes with this type of inheritance have been identified as related to hearing impairment, and the genetic heterogeneity is accompanied by a large variety of clinical characteristics. Adequate counselling on a patient's hearing prognosis and rehabilitation is part of the diagnosis on the genetic cause of hearing impairment and, in addition, is important for the psychological well-being of the patient. TYPE OF REVIEW: Traditional literature review. DATA SOURCE: All articles describing clinical characteristics of the audiovestibular phenotypes of identified genes and related loci have been reviewed. CONCLUSION: This review aims to serve as a summary and a reference for counselling purposes when a causative gene has been identified in a patient with a non-syndromic autosomal recessively inherited sensorineural hearing impairment.
Assuntos
Genes Recessivos , Perda Auditiva Neurossensorial/genética , Aconselhamento , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/reabilitação , Humanos , Fenótipo , PrognósticoRESUMO
OBJECTIVE: To evaluate the benefit of cochlear implantation in patients with Pendred syndrome. DESIGN: Retrospective study. SETTING: Tertiary centre. PARTICIPANTS AND MAIN OUTCOME MEASURES: Speech perception was measured using a phonetically balanced word list at a sound pressure level of 65 dB. Post-operative phoneme scores at 12-month for adults and 36-month for children with Pendred syndrome were compared to scores of patients with an enlarged vestibular aqueduct (EVA) and a reference group with an unknown cause of hearing impairment. Quality of life was measured with the Nijmegen Cochlear Implant Questionnaire to evaluate the differences between pre- and post-implantation. RESULTS: The mean post-operative phoneme scores were as follows: in the Pendred group, 91% (n = 16; SD = 10) for children and 78% (n = 7; SD = 14) for adults; in the reference group, 79% (n = 59; SD = 20) for children and 73% (n = 193; SD = 18) for adults; and in the EVA group, 84% (n = 6; SD = 7) for children and 66% (n = 12; SD = 22) for adults. A significant difference in speech perception was found between the children of the Pendred group and the reference group of 11.4% (SE = 5.2; P = 0.031). Between the adults, a difference of 11.2% (SE = 6.7; P = 0.094) was found. The difference between the Pendred group and the EVA group was 5.7%(SE = 4.5; P = 0.22) for children and 9.9% (SE = 8.7; P = 0.28) for adults. A significant improvement post-implantation in four of the six subdomains of the quality of life questionnaire was found: basic sound perception (P = 0.002), advanced sound perception (P = 0.004), speech production (P = 0.018) and activity limitations (P = 0.018). The two not significant subdomains were self-esteem (P = 0.164) and social interaction (P = 0.107). CONCLUSIONS: After cochlear implantation, children with Pendred syndrome performed better than the reference group with respect to speech perception, however, adults performed similar. No significant differences were found between the Pendred and EVA group. Consequently, during pre-operative counselling, the two groups of patients may be considered comparable in terms of expected speech perception performance after cochlear implantation.
Assuntos
Implante Coclear , Bócio Nodular/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Criança , Feminino , Humanos , Masculino , Qualidade de Vida , Estudos Retrospectivos , Percepção da Fala , Inquéritos e Questionários , Resultado do TratamentoRESUMO
DFNB1 is the most prevalent type of hereditary hearing impairment known nowadays and the audiometric phenotype is very heterogeneous. There is, however, no consensus in literature on vestibular and imaging characteristics. Vestibular function and imaging results of 44 DFNB1 patients were evaluated in this retrospective study. All patients displayed a response during rotational velocity step testing. In 65% of the cases, the caloric results were within normal range bilaterally. The video head impulse test was normal in all patients. In 34.4% of the CT scans one or more temporal bone anomalies were found. The various anomalies found, were present in small numbers and none seemed convincingly linked to a specific DFNB1genotype. The group of DFNB1 patients presented here is the largest thus far evaluated for their vestibular function. From this study, it can be assumed that DFNB1 is not associated with vestibular dysfunction or specific temporal bone anomalies.
Assuntos
Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/fisiopatologia , Osso Temporal/diagnóstico por imagem , Vestíbulo do Labirinto/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Conexina 26 , Conexina 30 , Conexinas/genética , Eletronistagmografia , Movimentos Oculares , Feminino , Predisposição Genética para Doença , Movimentos da Cabeça , Perda Auditiva Neurossensorial/genética , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação , Nistagmo Fisiológico , Fenótipo , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
OBJECTIVE: To create a system for the uniform registration and classification of complications and failures in cochlear implant surgery, and apply it to all the patients who underwent implantation in our clinic. METHOD: The definition of a medical complication was established, and data for all cochlear implantations performed between 1987 and 2012 were entered into a custom-made database system. RESULTS: One or more medical complications were registered in 19.0 per cent of 1003 cochlear implantations. The incidence of 'hard failure' was 2.3 per cent. Findings revealed a decrease in device failures over the years; the rate of medical complications remained constant. CONCLUSION: Our database system, which is available free of charge, enables fast and accurate data entry. There were a relatively high number of (minor) complications in our series, but comparison with the relevant literature is difficult. This emphasises the need for a uniform definition of 'complication' as it relates to cochlear implant surgery, and an appropriate classification system for such complications.
Assuntos
Implante Coclear/efeitos adversos , Implante Coclear/estatística & dados numéricos , Sistemas de Gerenciamento de Base de Dados , Falha de Prótese , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Conjuntos de Dados como Assunto , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Complicações Pós-Operatórias/classificação , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Adulto JovemRESUMO
We present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 patients from this family. Their hearing impairment was congenital, bilateral and symmetric. Audiograms showed mild-to-moderate hearing impairment with a flat audiogram configuration. Higher frequencies tended to be affected more strongly. Cross-sectional analyses showed no progression, and a mean audiogram was established. Psychophysical measurements in 3 HDR patients - including speech reception in noise, loudness scaling, gap detection and difference limen for frequency - were obtained to assess hearing function in greater detail. Overall, the results of the psychophysical measurements indicated characteristics of outer hair cell loss. CT scanning showed no anomalies in 3 of the HDR patients. Although 2 patients displayed vestibular symptoms, no anomalies in the vestibular system were found by vestibulo-ocular examination. Our results are in agreement with the theory that outer hair cell malfunctioning can play a major role in HDR syndrome.
Assuntos
Fator de Transcrição GATA3/genética , Perda Auditiva Neurossensorial/genética , Hipoparatireoidismo/genética , Mutação , Nefrose/genética , Audiometria de Tons Puros , Feminino , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Hipoparatireoidismo/fisiopatologia , Masculino , Nefrose/fisiopatologia , Países Baixos , Linhagem , Fenótipo , Percepção da Fala/fisiologia , Síndrome , Testes de Função VestibularRESUMO
A total of 64 loci for autosomal dominant non-syndromic hearing impairment have been described, and the causative genes have been identified for 24 of these. The present study reports on the clinical characteristics of an autosomal dominantly inherited hearing impairment that is linked to a region within the DFNA60 locus located on chromosome 2 in q22.1-24.1. A pedigree spanning four generations was established with 13 affected individuals. Linkage analysis demonstrated that the locus extended over a 2.96 Mb region flanked by markers D2S2335 and D2S2275. The audiograms mainly showed a distinctive U-shaped configuration. Deterioration of hearing started at a wide age range, from 12 to 40 years. Cross-sectional analysis showed rapid progression of hearing impairment from mild to severe, between the ages of 40 and 60 years, a phenomenon that is also observed in DFNA9 patients. The results of the individual longitudinal analyses were generally in line with those obtained by the cross-sectional analysis. Speech recognition scores related to the level of hearing impairment (PTA1,2,4 kHz) appeared to be fairly similar to those of presbyacusis patients. It is speculated that hearing impairment starting in mid-life, as shown by DFNA60 patients, could play a role in the development of presbyacusis. Furthermore, speech recognition did not deteriorate appreciably before the sixth decade of life. We conclude that DFNA60 should be considered in hearing impaired patients who undergo a rapid progression in middle age and are negative for DFNA9. Furthermore, cochlear implantation resulted in good rehabilitation in two DFNA60 patients.
Assuntos
Percepção Auditiva/genética , Cromossomos Humanos Par 2 , Genes Dominantes , Loci Gênicos , Perda Auditiva Neurossensorial/genética , Audição/genética , Adolescente , Adulto , Fatores Etários , Audiometria de Tons Puros , Audiometria da Fala , Criança , Implante Coclear , Progressão da Doença , Feminino , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Neurossensorial/psicologia , Perda Auditiva Neurossensorial/reabilitação , Hereditariedade , Humanos , Masculino , Linhagem , Fenótipo , Reconhecimento Psicológico , Índice de Gravidade de Doença , Inteligibilidade da Fala , Percepção da Fala , Adulto JovemRESUMO
Since deafness is the most common sensorineural disorder in humans, better understanding of the underlying causes is necessary to improve counseling and rehabilitation. A Dutch family with autosomal dominantly inherited sensorineural hearing loss was clinically and genetically assessed. The MYO6 gene was selected to be sequenced because of similarities with other, previously described DFNA22 phenotypes and a pathogenic c.3610C > T (p.R1204W) mutation was found to co-segregate with the disease. This missense mutation results in a flat configured audiogram with a mild hearing loss, which becomes severe to profound and gently to steeply downsloping later in life. The age-related typical audiograms (ARTA) constructed for this family resemble presbyacusis. Speech audiometry and results of loudness scaling support the hypothesis that the phenotype of this specific MYO6 mutation mimics presbyacusis.
Assuntos
Perda Auditiva Neurossensorial/genética , Audição/genética , Mutação de Sentido Incorreto , Cadeias Pesadas de Miosina/genética , Presbiacusia/genética , Estimulação Acústica , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Audiometria de Tons Puros , Audiometria da Fala , Limiar Auditivo , Criança , Análise Mutacional de DNA , Progressão da Doença , Feminino , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Neurossensorial/psicologia , Hereditariedade , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Presbiacusia/fisiopatologia , Presbiacusia/psicologia , Percepção da Fala , Vestíbulo do Labirinto/fisiopatologia , Adulto JovemRESUMO
OBJECTIVE: To evaluate hearing impairment and cochlear function in non-ocular Stickler syndrome. STUDY DESIGN: Multifamily study. PATIENTS & METHODS: Ten patients from two different families with non-ocular Stickler syndrome (Stickler syndrome type 3) were included. Six members of the first family and four members of the second family participated in this study. Otorhinolaryngologic examinations were performed. Pure-tone and speech audiograms were obtained. Longitudinal analysis was performed. Psychophysical measurements, including loudness scaling, gap detection, difference limen for frequency and speech perception in noise were administered to assess cochlear function at a deeper level. RESULTS: Affected individuals in the first family were carriers of a heterozygous splice donor mutation in the COL11A2 gene. Affected individuals in the second family were carriers of a novel heterozygous missense mutation in COL11A2. Both families showed bilateral, non-progressive hearing impairment with childhood onset. The severity of the hearing impairment exhibited inter- and intrafamilial variability and was mostly mild to moderate. The results of the psychophysical measurements were similar to those previously published for DFNA8/12 (TECTA) and DFNA13 (COL11A2) patients and thus consistent with an intra-cochlear conductive hearing impairment. This is in line with the theory that mutations in COL11A2 affect tectorial membrane function. CONCLUSION: Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Psychophysical measurements in non-ocular Stickler patients were suggestive of intra-cochlear conductive hearing impairment.
Assuntos
Artrite/genética , Artrite/fisiopatologia , Colágeno Tipo XI/genética , Doenças do Tecido Conjuntivo/genética , Doenças do Tecido Conjuntivo/fisiopatologia , Perda Auditiva Condutiva/genética , Perda Auditiva Condutiva/fisiopatologia , Mutação , Artrite/psicologia , Audiometria de Tons Puros , Audiometria da Fala , Doenças do Tecido Conjuntivo/psicologia , Feminino , Expressão Gênica , Perda Auditiva Condutiva/psicologia , Heterozigoto , Humanos , Masculino , Países Baixos , Linhagem , Fenótipo , Psicoacústica , Membrana Tectorial/fisiopatologiaRESUMO
OBJECTIVES: The influence of an extended preoperative trial of bone-anchored hearing aid (BAHA) and headband on the decision to proceed with surgery in cases of unilateral sensorineural hearing loss is studied. DESIGN: In this prospective study, the headband was introduced after assessment confirmed suitable candidacy. Those who had an initially favourable response to the headband trial were encouraged to complete a 2-week home trial of device and headband. Patients were asked to pay special attention to situations where they perceived high demands on their hearing, e.g. at the dinner table, in the car, walking outside etc. Counselling regarding the BAHA placement, the need for daily care of the implant site and the financial implications of acquiring the device was also given. SETTING: Tertiary university hospital. PARTICIPANTS: Patients with unilateral sensorineural hearing loss, fulfilling criteria for BAHA surgery, with favourable response to initial 'office trial' of headband. MAIN OUTCOME MEASURES: After 2-week home trial, BAHA and headband were returned with a statement of the patient's intentions. RESULTS: Sixteen of 50 (32%) patients who expressed definite interest in BAHA surgery after a positive introduction to the headband in the office did not wish to proceed to surgery having completed a more thorough 2-week trial of device at home. Most patients cited a failure of the device to meet their hearing requirements. Subsequently, we found further attrition with nine more patients (18%) deciding at a still later date, not to proceed with surgery. Ultimately, just 25 of 50 (50%) of our initially enthusiastic group chose not to proceed to surgery. In the group who did proceed, there were no non-users. CONCLUSIONS: We propose the importance of an extended preoperative trial where BAHA is considered in the rehabilitation of unilateral sensorineural hearing loss. The trial may foster more realistic expectations of device performance in this challenging group. A 'cooling-off' period before surgery also appears to lead to further attrition with the ultimate reward of no non-users in those proceeding to surgery.
Assuntos
Auxiliares de Audição , Perda Auditiva Neurossensorial/reabilitação , Perda Auditiva Unilateral/reabilitação , Âncoras de Sutura , Adolescente , Adulto , Idoso , Criança , Aconselhamento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Desenho de Prótese , Resultado do TratamentoRESUMO
OBJECTIVE: Investigation of the audiometric characteristics of a large Dutch DFNX4 family with a p.Glu72X mutation in the SMPX gene. PATIENTS AND METHODS: Sixty family members participated in this study and examination consisted of medical history, otoscopy, pure tone and speech audiometry. Linkage and mutation analysis revealed a pathogenic mutation in the SMPX gene. RESULTS: All 25 mutation carriers exhibited hearing impairment, except one woman aged 25 years. The men (n = 10) showed more severe hearing impairment than the women (n = 14) and already at a younger age. The age of onset according to history was 2-10 years (mean: 3.3 years) in men and 3-48 years (mean: 26.4 years) in women. In the men, severe threshold deterioration mainly occurred during the first two decades of life, especially at the higher frequencies. The women showed milder threshold deterioration and more pronounced across-subjects and individual inter-aural variation, especially at 2-8 kHz. Longitudinal linear regression analysis demonstrated significant progression of at least two frequencies in five individuals (3 men and 2 women). The speech recognition scores of the mutation carriers with hearing impairment were decreased at relatively young ages compared to a reference group of patients with only presbycusis, especially in men. However, all these patients tended to have better speech recognition scores than the presbycusis patients at matching PTA(1,2,4 kHz) levels. CONCLUSION: This study demonstrates the phenotypic heterogeneity in this large family with an X-linked pattern of inherited sensorineural hearing impairment. The men showed more severe hearing impairment at a younger age with more pronounced progression during the first two decades of life, while women demonstrated less severe hearing impairment with more gradual progression and a wider variation in age of onset, degree of hearing impairment and inter-aural asymmetry in thresholds.
Assuntos
Percepção Auditiva/genética , Perda Auditiva Neurossensorial/genética , Proteínas Musculares/genética , Mutação , Pessoas com Deficiência Auditiva , Estimulação Acústica , Adolescente , Adulto , Idade de Início , Audiometria de Tons Puros , Audiometria da Fala , Limiar Auditivo , Criança , Pré-Escolar , Progressão da Doença , Feminino , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Neurossensorial/psicologia , Hereditariedade , Humanos , Modelos Lineares , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Países Baixos , Dinâmica não Linear , Otoscopia , Pessoas com Deficiência Auditiva/psicologia , Fenótipo , Reflexo Vestíbulo-Ocular/genética , Índice de Gravidade de Doença , Fatores Sexuais , Percepção da Fala/genética , Adulto JovemRESUMO
Description of the audiometric and vestibular characteristics of a Dutch family with Muckle-Wells syndrome (MWS). Examination of all family members consisted of pure tone audiometry, otoscopy and genetic analysis. In addition, a selected group underwent speech audiometry, vestibulo-ocular examination, acoustic reflex testing and tests assessing loudness scaling, gap detection, difference limen for frequency and speech perception in noise. Linear regression analyses were performed on the audiometric data. Six clinically affected family members participated in this study and all were carriers of a p.Tyr859His mutation in the NLPR3 gene. Most affected family members reported bilateral, slowly progressive hearing impairment since childhood. Hearing impairment started at the high frequencies and the low- and mid-frequency threshold values deteriorated with advancing age. Annual threshold deterioration (ATD) ranged from 1.3 to 1.9 dB/year with the highest values at the lower frequencies. Longitudinal linear regression analysis demonstrated significant progression for a number of frequencies in five individuals. Speech recognition scores were clearly affected. However, these individuals tended to have higher speech recognition scores than presbyacusis patients at similar PTA(1,2,4 kHz) levels. The loudness growth curves were steeper than those found in individuals with normal hearing, except for one family member (individual IV:6). Suprathreshold measurements, such as difference limen for frequency (DL(f)), gap detection and particularly speech perception in noise were within the normal range or at least close to data obtained in two groups of patients with a so-called conductive type of hearing loss, situated in the cochlea. Hearing impairment in MWS is variable and shows resemblance to previously described intra-cochlear conductive hearing impairment. This could be helpful in elucidating the pathogenesis of hearing impairment in MWS. Other associated symptoms of MWS were mild and nonspecific in the present family. Therefore, even without any obvious syndromic features, MWS can be the cause of sensorineural hearing impairment, especially when combined with (mild) skin rash and musculoskeletal symptoms. An early diagnosis of MWS is essential to prevent irreversible damage from amyloidosis. The effect of IL-1ß inhibitors on hearing impairment is more controversial, but an early start of treatment seems to be essential. Therefore, our results are of importance in patient care and counselling.
Assuntos
Audiometria de Tons Puros , Audiometria da Fala , Percepção Auditiva/genética , Proteínas de Transporte/genética , Síndromes Periódicas Associadas à Criopirina/genética , Perda Auditiva/diagnóstico , Mutação , Estimulação Acústica , Adolescente , Adulto , Limiar Auditivo , Criança , Pré-Escolar , Síndromes Periódicas Associadas à Criopirina/complicações , Síndromes Periódicas Associadas à Criopirina/tratamento farmacológico , Análise Mutacional de DNA , Progressão da Doença , Feminino , Predisposição Genética para Doença , Perda Auditiva/genética , Perda Auditiva/fisiopatologia , Perda Auditiva/psicologia , Perda Auditiva/terapia , Hereditariedade , Humanos , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Modelos Lineares , Percepção Sonora , Masculino , Pessoa de Meia-Idade , Proteína 3 que Contém Domínio de Pirina da Família NLR , Países Baixos , Ruído/efeitos adversos , Otoscopia , Linhagem , Mascaramento Perceptivo , Fenótipo , Valor Preditivo dos Testes , Reflexo Acústico/genética , Reflexo Vestíbulo-Ocular/genética , Percepção da Fala/genética , Testes de Função Vestibular , Adulto JovemAssuntos
Cromossomos Humanos Par 1/genética , Otosclerose/genética , Mapeamento Cromossômico , Dinamarca , Feminino , Humanos , Masculino , LinhagemRESUMO
The aim of the study was to report otologic and audiologic characteristics in a group of children with Turner syndrome (TS) and correlate these findings to karyotype. Additionally, we give recommendations for the otologic care of these children. Sixty children (age 1.7-21.2 years) were included in this retrospective study. Medical history and karyotypes were recorded and otologic and audiologic evaluation was performed. A history of recurrent otitis media was reported in 41/60 (68%) children and 3/60 (5%) had suffered from cholesteatoma. Audiometric data in 56 children revealed that normal hearing was only present in 33/112 (29%) ears. All other ears 79/112 (71%) were classified in five different audiometric categories for hearing loss. Hearing thresholds in general appeared to be about 10-11 dB worse in children with a monosomy 45,X or isochromosome (both have a total deletion of the short (p) arm of the X-chromosome) compared to those having a mosaicism or structural anomaly (partial deletion, or total deletion in only a few cells). Our findings support the hypothesis that hearing can be affected by loss of the p-arm of the X-chromosome. It is for the first time that a relation between hearing problems and karyotype is statistically confirmed in a large group of children with TS.
Assuntos
Otopatias/genética , Transtornos da Audição/genética , Síndrome de Turner/genética , Síndrome de Turner/fisiopatologia , Adolescente , Adulto , Audiologia/métodos , Audiometria/métodos , Criança , Pré-Escolar , Cromossomos Humanos X/genética , Otopatias/etiologia , Feminino , Deleção de Genes , Audição , Transtornos da Audição/etiologia , Humanos , Lactente , Isocromossomos , Cariotipagem , Masculino , MosaicismoRESUMO
Audiometric features, evaluated by serial pure tone audiometry and speech recognition tests (n = 31), were analysed in 59 Finnish Usher syndrome type III patients (USH3) with Finmajor/Finmajor (n = 55) and Finmajor/Finminor (n = 4) USH3A mutations. These patients showed a highly variable type and degree of progressive sensorineural hearing impairment: from normal to moderate USH2A-like hearing impairment at young ages to profound or even USH1B-like hearing impairment at more advanced ages. Compound heterozygous patients generally showed a milder phenotype. The highest progression was seen during the first two decades of life, gradually slowing down with further ageing. This type of non-linear progression may be unique amongst the Usher syndromes. Speech recognition started to deteriorate at highly variable ages. In some patients, it jeopardised normal speech and language development, whereas in others it was still remarkably good at advanced ages.