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1.
Sci Rep ; 10(1): 21801, 2020 12 11.
Artigo em Inglês | MEDLINE | ID: mdl-33311548

RESUMO

The impact of age-related hearing loss extends beyond the auditory pathway and impacts brain areas related to cognitive impairment and even dementia. The presence of tinnitus, a sensation of sound that frequently co-occurs with hearing loss, is additionally linked to cognitive decline. Interestingly, structural neuroimaging studies have reported that hearing loss may precede or modulate the onset of cognitive impairment. In this study, we aimed to disentangle the effects of age, hearing loss, and tinnitus on gray matter structure. In total, 39 participants with hearing loss and tinnitus, 21 with hearing loss but without tinnitus, and 39 controls were included in this voxel- and surface-based morphometry MRI study. Whole brain volume and surface thickness measures were compared between the groups. Age-related gray matter volume decline was observed in all groups. Several brain areas showed smaller gray matter volume and cortical surface thickness in hearing loss without tinnitus, relative to controls. This reduction was observed both within and outside of the auditory pathway. Interestingly, these reductions were not observed in participants with tinnitus, who had similar hearing loss and were of similar age. Since we have tools to improve hearing loss, hearing screening may aid in the battle against cognitive decline.


Assuntos
Envelhecimento , Disfunção Cognitiva , Surdez , Substância Cinzenta , Imageamento por Ressonância Magnética , Zumbido , Adulto , Idoso , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/fisiopatologia , Surdez/diagnóstico por imagem , Surdez/fisiopatologia , Feminino , Substância Cinzenta/diagnóstico por imagem , Substância Cinzenta/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Zumbido/diagnóstico por imagem , Zumbido/fisiopatologia
2.
Ear Hear ; 42(1): 20-28, 2020 12 22.
Artigo em Inglês | MEDLINE | ID: mdl-33369590

RESUMO

OBJECTIVES: The impact of social distancing on communication and psychosocial variables among individuals with hearing impairment during COVID-19 pandemic. It was our concern that patients who already found themselves socially isolated (Wie et al. 2010) as a result of their hearing loss would be perhaps more susceptible to changes in their communication habits resulting in further social isolation, anxiety, and depression. We wanted to better understand how forced social isolation (as part of COVID-19 mitigation) effected a group of individuals with hearing impairment from an auditory ecology and psychosocial perspective. We hypothesized that the listening environments would be different as a result of social isolation when comparing subject's responses regarding activities and participation before COVID-19 and during the COVID-19 pandemic. This change would lead to an increase in experienced and perceived social isolation, anxiety, and depression. DESIGN: A total of 48 adults with at least 12 months of cochlear implant (CI) experience reported their listening contexts and experiences pre-COVID and during-COVID using Ecological Momentary Assessment (EMA; methodology collecting a respondent's self-reports in their natural environments) through a smartphone-based app, and six paper and pencil questionnaires. The Smartphone app and paper-pencil questionnaires address topics related to their listening environment, social isolation, depression, anxiety, lifestyle and demand, loneliness, and satisfaction with amplification. Data from these two-time points were compared to better understand the effects of social distancing on the CI recipients' communication abilities. RESULTS: EMA demonstrated that during-COVID CI recipients were more likely to stay home or be outdoors. CI recipients reported that they were less likely to stay indoors outside of their home relative to the pre-COVID condition. Social distancing also had a significant effect on the overall signal-to-noise ratio of the environments indicating that the listening environments had better signal-to-noise ratios. CI recipients also reported better speech understanding, less listening effort, less activity limitation due to hearing loss, less social isolation due to hearing loss, and less anxiety due to hearing loss. Retrospective questionnaires indicated that social distancing had a significant effect on the social network size, participant's personal image of themselves, and overall loneliness. CONCLUSIONS: Overall, EMA provided us with a glimpse of the effect that forced social isolation has had on the listening environments and psychosocial perspectives of a select number of CI listeners. CI participants in this study reported that they were spending more time at home in a quieter environments during-COVID. Contrary to our hypothesis, CI recipients overall felt less socially isolated and reported less anxiety resulting from their hearing difficulties during-COVID in comparison to pre-COVID. This, perhaps, implies that having a more controlled environment with fewer speakers provided a more relaxing listening experience.


Assuntos
/prevenção & controle , Implante Coclear , Perda Auditiva/psicologia , Razão Sinal-Ruído , Percepção da Fala , Adulto , Idoso , Ansiedade/psicologia , Implantes Cocleares , Surdez/fisiopatologia , Surdez/psicologia , Surdez/reabilitação , Depressão/psicologia , Avaliação Momentânea Ecológica , Meio Ambiente , Feminino , Auxiliares de Audição , Perda Auditiva/fisiopatologia , Perda Auditiva/reabilitação , Perda Auditiva Bilateral/fisiopatologia , Perda Auditiva Bilateral/psicologia , Perda Auditiva Bilateral/reabilitação , Perda Auditiva Unilateral/fisiopatologia , Perda Auditiva Unilateral/psicologia , Perda Auditiva Unilateral/reabilitação , Humanos , Masculino , Pessoa de Meia-Idade , Ruído , Isolamento Social/psicologia
5.
PLoS One ; 15(9): e0239487, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32976532

RESUMO

BACKGROUND: For patients with single-sided deafness (SSD), restoration of binaural function via cochlear implant (CI) has been shown to improve speech understanding in noise. The objective of this study was to investigate changes in behavioral performance and cortical auditory responses following cochlear implantation. DESIGN: Prospective longitudinal study. SETTING: Tertiary referral center. METHODS: Six adults with SSD were tested before and 12 months post-activation of the CI. Six normal hearing (NH) participants served as experimental controls. Speech understanding in noise was evaluated for various spatial conditions. Cortical auditory evoked potentials were recorded with /ba/ stimuli in quiet and in noise. Global field power and responses at Cz were analyzed. RESULTS: Speech understanding in noise significantly improved with the CI when speech was presented to the CI ear and noise to the normal ear (p<0.05), but remained poorer than that of NH controls (p<0.05). N1 peak amplitude measure in noise significantly increased after CI activation (p<0.05), but remained lower than that of NH controls (p<0.05) at 12 months. After 12 months of CI experience, cortical responses in noise became more comparable between groups. CONCLUSION: Binaural restoration in SSD patients via cochlear implantation improved speech performance noise and cortical responses. While behavioral performance and cortical auditory responses improved, SSD-CI outcomes remained poorer than that of NH controls in most cases, suggesting only partial restoration of binaural hearing.


Assuntos
Córtex Auditivo/fisiologia , Surdez/fisiopatologia , Perda Auditiva Unilateral/fisiopatologia , Percepção da Fala/fisiologia , Fala/fisiologia , Idoso , Implante Coclear/métodos , Implantes Cocleares , Compreensão/fisiologia , Potenciais Evocados Auditivos/fisiologia , Feminino , Audição/fisiologia , Perda Auditiva Neurossensorial/fisiopatologia , Testes Auditivos/métodos , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Ruído , Estudos Prospectivos , Localização de Som/fisiologia
6.
PLoS One ; 15(8): e0236800, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32776962

RESUMO

Deafness leads to brain modifications that are generally associated with a cross-modal activity of the auditory cortex, particularly for visual stimulations. In the present study, we explore the cortical processing of biological motion that conveyed either non-communicative (pantomimes) or communicative (emblems) information, in early-deaf and hearing individuals, using fMRI analyses. Behaviorally, deaf individuals showed an advantage in detecting communicative gestures relative to hearing individuals. Deaf individuals also showed significantly greater activation in the superior temporal cortex (including the planum temporale and primary auditory cortex) than hearing individuals. The activation levels in this region were correlated with deaf individuals' response times. This study provides neural and behavioral evidence that cross-modal plasticity leads to functional advantages in the processing of biological motion following lifelong auditory deprivation.


Assuntos
Comportamento , Surdez/fisiopatologia , Percepção de Movimento/fisiologia , Adulto , Córtex Auditivo/diagnóstico por imagem , Mapeamento Encefálico , Feminino , Gestos , Humanos , Imageamento por Ressonância Magnética , Masculino , Estimulação Luminosa , Lobo Temporal/diagnóstico por imagem , Adulto Jovem
7.
PLoS One ; 15(7): e0236179, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32687516

RESUMO

Previous cochlear implant (CI) research has shown that at a pulse train with a long pulse phase duration (PPD) requires less current but greater charge to obtain the same loudness as a pulse train with a short PPD. This might result in different excitation patterns between long and short PPDs. At equal loudness, long PPDs might produce greater masking due to greater charge. However, because they require less current, long PPDs may produce a smaller spatial spread of excitation (SOE) compared to short PPDs by evoking a greater neural firing probability within the relatively small current field. To investigate the effects of PPD on excitation patterns, overall masking and SOE were compared for equally loud stimuli with short or long PPD in 10 adult CI ears. Forward masking patterns were measured at relatively soft, medium, and loud presentation levels. Threshold shifts were calculated in terms of percent dynamic range (DR) of the probe. The area under the curve (AUC) of the masking functions was significantly larger for the long PPD than for the short PPD masker. The difference in AUC was proportional to the difference in charge between the short and long PPD maskers. To estimate SOE, the masking patterns were first normalized to the peak masking, and then AUC was calculated. SOE was significantly larger for the short PPD than for the long PPD masker. Thus, at equal loudness, long PPDs produced greater overall masking (possibly due to greater charge) but less SOE (possibly due to less current spread) than did short PPDs. The effect of the interaction between masking and SOE by long PPD stimulation remains to be tested.


Assuntos
Percepção Auditiva/fisiologia , Limiar Auditivo/fisiologia , Implantes Cocleares , Potenciais Evocados Auditivos/fisiologia , Mascaramento Perceptivo/fisiologia , Potenciais de Ação/fisiologia , Idoso , Implante Coclear/instrumentação , Surdez/fisiopatologia , Surdez/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
8.
PLoS One ; 15(7): e0235504, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32658911

RESUMO

Ten cochlear implant (CI) users with single-sided deafness were asked to vary the parameters of an acoustic sound played to their contralateral ear to characterize the perception evoked by a pure tone played through the direct audio input of their CI. Two frequencies, centered on an apical and a medial electrode, were tested. In six subjects, the electrode positions were estimated on CT scans. The study was divided in 3 experiments in which the parameters of the acoustic sound varied. The listeners had to vary the frequency of a pure tone (Exp.1), the center frequency and the bandwidth of a filter applied to a harmonic complex sound (Exp.2), and the frequency of the components and the inharmonicity factor of a complex sound (Exp.3). Two testing sessions were performed at 3 and 12 months after activation. The mean results of Exp. 1 showed that the frequency of the matched tone was significantly lower for the apical than for the medial stimulus. In Exp.2, the mean center frequencies of the filters were also significantly lower for the apical than for the medial stimulus. As this parameter modifies the energy ratio between the high and low-frequency components, this result suggests that the medial stimulus was perceived with a brighter timbre than the apical stimulus. In Exp.3, the mean frequencies of the components were not significantly different between the sounds resulting from the stimulation of the two electrodes, but were significantly lower at the12-month session compared to the 3-month visit. These results suggest that a change in place of excitation may be perceived as a change in timbre rather than a change in pitch, and that an effect of adaptation can be observed.


Assuntos
Percepção Auditiva/fisiologia , Implantes Cocleares , Surdez/fisiopatologia , Som , Adulto , Idoso , Humanos , Pessoa de Meia-Idade
9.
Nat Commun ; 11(1): 3246, 2020 06 26.
Artigo em Inglês | MEDLINE | ID: mdl-32591503

RESUMO

Language provides a rich source of information about other people's thoughts and feelings. Consequently, delayed access to language may influence conceptual development in Theory of Mind (ToM). We use functional magnetic resonance imaging and behavioral tasks to study ToM development in child (n = 33, 4-12 years old) and adult (n = 36) fluent signers of American Sign Language (ASL), and characterize neural ToM responses during ASL and movie-viewing tasks. Participants include deaf children whose first exposure to ASL was delayed up to 7 years (n = 12). Neural responses to ToM stories (specifically, selectivity of the right temporo-parietal junction) in these children resembles responses previously observed in young children, who have similar linguistic experience, rather than those in age-matched native-signing children, who have similar biological maturation. Early linguistic experience may facilitate ToM development, via the development of a selective brain region for ToM.


Assuntos
Encéfalo/fisiopatologia , Surdez/fisiopatologia , Saúde Mental , Línguas de Sinais , Adolescente , Adulto , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Cultura , Comportamento Exploratório , Feminino , Humanos , Idioma , Linguística , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Princípios Morais , Análise e Desempenho de Tarefas , Teoria da Mente , Adulto Jovem
10.
Nucleic Acids Res ; 48(9): 5065-5080, 2020 05 21.
Artigo em Inglês | MEDLINE | ID: mdl-32249312

RESUMO

Disabling hearing loss impacts ∼466 million individuals worldwide with 34 million children affected. Gene and pharmacotherapeutic strategies to rescue auditory function in mouse models of human deafness are most effective when administered before hearing onset, after which therapeutic efficacy is significantly diminished or lost. We hypothesize that preemptive correction of a mutation in the fetal inner ear prior to maturation of the sensory epithelium will optimally restore sensory function. We previously demonstrated that transuterine microinjection of a splice-switching antisense oligonucleotide (ASO) into the amniotic cavity immediately surrounding the embryo on embryonic day 13-13.5 (E13-13.5) corrected pre-mRNA splicing in the juvenile Usher syndrome type 1c (Ush1c) mouse mutant. Here, we show that this strategy only marginally rescues hearing and partially rescues vestibular function. To improve therapeutic outcomes, we microinjected ASO directly into the E12.5 inner ear. A single intra-otic dose of ASO corrects harmonin RNA splicing, restores harmonin protein expression in sensory hair cell bundles, prevents hair cell loss, improves hearing sensitivity, and ameliorates vestibular dysfunction. Improvements in auditory and vestibular function were sustained well into adulthood. Our results demonstrate that an ASO pharmacotherapeutic administered to a developing organ system in utero preemptively corrects pre-mRNA splicing to abrogate the disease phenotype.


Assuntos
Proteínas de Ciclo Celular/genética , Proteínas do Citoesqueleto/genética , Surdez/congênito , Surdez/tratamento farmacológico , Oligonucleotídeos Antissenso/uso terapêutico , Vestíbulo do Labirinto/fisiopatologia , Âmnio , Animais , Limiar Auditivo/efeitos dos fármacos , Proteínas de Ciclo Celular/metabolismo , Proteínas do Citoesqueleto/metabolismo , Surdez/genética , Surdez/fisiopatologia , Orelha Interna/efeitos dos fármacos , Orelha Interna/metabolismo , Feto , Células Ciliadas Auditivas/efeitos dos fármacos , Células Ciliadas Auditivas/metabolismo , Células Ciliadas Auditivas/ultraestrutura , Camundongos , Microinjeções , Mutação , Oligonucleotídeos Antissenso/administração & dosagem , Splicing de RNA/efeitos dos fármacos , Vestíbulo do Labirinto/efeitos dos fármacos
11.
Otolaryngol Head Neck Surg ; 162(6): 926-932, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32178574

RESUMO

OBJECTIVE: Default frequency filters of cochlear implant (CI) devices assign frequency information irrespective of intracochlear position, resulting in varying degrees of frequency-to-place mismatch. Substantial mismatch negatively influences speech recognition in postlingually deafened CI recipients, and acclimatization may be particularly challenging for older adults due to effects of aging on the auditory pathway. The present report investigated the influence of mismatch and age at implantation on speech recognition within the initial 6 months of CI use. STUDY DESIGN: Retrospective review. SETTING: Tertiary referral center. SUBJECTS AND METHODS: Forty-eight postlingually deafened adult CI recipients of lateral wall electrode arrays underwent postoperative computed tomography to determine angular insertion depth of each electrode contact. Frequency-to-place mismatch was determined by comparing spiral ganglion place frequencies to default frequency filters. Consonant-nucleus-consonant (CNC) scores in the CI-alone condition at 1, 3, and 6 months postactivation were compared to the degree of mismatch at 1500 Hz and age at implantation. RESULTS: Younger adult CI recipients experienced more rapid growth in speech recognition during the initial 6 months postactivation. Greater degrees of frequency-to-place mismatch were associated with poorer performance, yet older listeners were not particularly susceptible to this effect. CONCLUSIONS: While older adults are not necessarily more sensitive to detrimental effects of frequency-to-place mismatch, other factors appear to limit early benefit with a CI in this population. These results suggest that minimizing mismatch could optimize outcomes in adult CI recipients across the life span, which may be particularly beneficial in the elderly considering auditory processing deficits associated with advanced age.


Assuntos
Implante Coclear/métodos , Surdez/reabilitação , Percepção da Fala/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Surdez/diagnóstico , Surdez/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
12.
Ann Otol Rhinol Laryngol ; 129(8): 833-837, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32019320

RESUMO

OBJECTIVES: Too little is known about hearing loss rehabilitation in patients with Alström syndrome (AS). Benefits of hearing aids (HA) have not been fully documented and only one case treated with a Cochlear Implant (CI) has been described in the proceedings of a conference. Furthermore, comorbidities and risk of complications following surgical intervention may contraindicate Cochlear Implant procedures in these patients.The present case report concerns the first AS patient with CI in the literature. METHODS: After reporting a concise description of the audiological profile of patients with AS described in the literature, the case of a 22-year-old woman with genetically confirmed Alström syndrome who underwent a sequential bilateral CI (Bi-CI) rehabilitation is reported. Audiological results before and after cochlear implantation are described. RESULTS: The patient showed an excellent functional outcome with CIs, which enabled her to achieve communicative, social and academic results comparable with her peers, and no complications occurred. CONCLUSIONS: AS is not necessarily an absolute contraindication to CI. For many AS patients, a good cognitive function and adequate life expectancy represent a clear indication to prompt and adequate hearing rehabilitation with CIs. The description of this type of clinical cases could in the future also generate indications for a tailored audiological treatment of patients with very specific needs, such as patients with Alström Syndrome.


Assuntos
Síndrome de Alstrom/complicações , Implantes Cocleares , Surdez/cirurgia , Percepção da Fala/fisiologia , Audiometria , Surdez/etiologia , Surdez/fisiopatologia , Feminino , Humanos , Adulto Jovem
13.
PLoS One ; 15(2): e0229591, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32106252

RESUMO

Previous research has established a correlation between literacy skills and sign language skills among deaf children raised in signing families, but little research has examined the impact of early signing skills on the rate of growth of emergent literacy in early childhood. A subset of data was extracted from a larger dataset containing national longitudinal data from a three-year investigation of early literacy development of deaf children who were between the ages of three and six at the outset of the study. Selection criteria for inclusion in this limited sample included: 1) being rated as having little or no access to spoken language and 2) being raised in homes in which signs were regularly used as a means of communication (N = 56). Our purpose was twofold: 1) to examine and describe the trajectories of growth in letter and word identification skill for this sample in relation to the participants' initial ages; and 2) to assess the degree to which the presence or deaf parents in the home (DoD) and the receptive American Sign Language (ASL) skills of the participants impacted both the level of emerging print literacy and its rate of growth over the three year period. We hypothesized that both the presence of a deaf parent in the home and the acquisition of ASL skills, a strong native language, would contribute to both the overall letter and word identification skills and to the rates of growth of this skill over time. Results indicated that having a deaf parent did, indeed, impact emergent literacy attainment, but its effect was rendered nonsignificant when ASL skill was taken into consideration. Possession of stronger ASL skills, whether or not the children had deaf parents, contributed significantly to both the levels and rate of growth. The findings contribute to the body of work that emphasizes the importance early language skills (spoken or signed) to later academic success and dispels the myth that deaf children with deaf parents have exclusive access to the acquisition of these skills.


Assuntos
Surdez/psicologia , Desenvolvimento da Linguagem , Línguas de Sinais , Criança , Linguagem Infantil , Pré-Escolar , Surdez/fisiopatologia , Surdez/terapia , Feminino , Humanos , Alfabetização , Estudos Longitudinais , Masculino , Pais/psicologia , Leitura
14.
Int J Pediatr Otorhinolaryngol ; 130: 109840, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31901767

RESUMO

OBJECTIVE: Functional integrity of vestibular end organs is essential for gaze stabilization, dynamic visual acuity, postural control and spatial orientation. Some authors hypothesized on the importance of saccules for postural control and motor development in children, including achievements such as standing up and walking. The purpose of this article was to observe how saccular dysfunction assessed by cervical Vestibular Evoked Myogenic Potentials (cVEMPs) correlates with the quality of postural control in non-syndromic deaf children. METHOD: Seventy-six non-syndromic hearing-impaired children were retrospectively included. Sacculo-collic pathway was assessed with cVEMPs elicited in bone conduction. The response was quoted "normal" if a reproducible wave P13-N23 of at least 50µV in amplitude was present, if not, it was quoted "absent". The sample was divided in 3 groups depending on the presence of the sacculo-collic responses: normal bilateral group (Group 1), normal unilateral (Group 2) and absent bilaterally group (Group 3). Motor assessment was achieved with Movement Assessment Battery for Children, second edition (MABC-2). Postural control (PC) was assessed using the dynamic Balance Quest platform. The scores obtained with MABC-2, and the postural parameters recorded on the Balance Quest platform (sway of Centre of Pressure and spectral power index) were analyzed and compared throughout the groups. RESULTS: Group 1 (normal bilateral) showed the best scores regarding motor abilities and postural stability within available normative data. Group 3 (absent bilateral) had the lowest motor and postural control skills. A good correlation between the scores obtained by MABC-2 motor test and dynamic posturography (Balance Quest) was observed. CONCLUSIONS: The presence of at least one sacculo-collic response would predict satisfactory static and dynamic motor and postural control skills in non-syndromic hearing-impaired children. MABC-2 and Dynamic Posturography Balance Quest appears reliable and comparable tools for PC assessment in hearing impaired children. In the light of these results, it appears that in young children candidates for uni- or bilateral CI whose walking is not yet acquired, should receive a vestibular assessment before surgery to avoid the risk of bilateral sacculo-collic function impairment.


Assuntos
Surdez/fisiopatologia , Equilíbrio Postural/fisiologia , Sáculo e Utrículo/fisiopatologia , Potenciais Evocados Miogênicos Vestibulares/fisiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Vestíbulo do Labirinto/fisiopatologia
16.
Int J Pediatr Otorhinolaryngol ; 131: 109867, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31999994

RESUMO

INTRODUCTION: Previous auditory experience modifies the sensitivity of the auditory cortex to the afferent activity of the auditory pathways and may influence the threshold (T) and comfort (C) levels in patients receiving a cochlear implant (CI). Literature data on this particular topic is very scarce. OBJECTIVE: This study aimed to evaluate the differences in T/C-levels between pre- and postlingually implanted cochlear implant patients. METHODS: Retrospective case review in a quaternary otologic referral centre was performed. Data on the T/C-levels have been collected in 90 consecutive CI patients divided into 2 groups. Group 1 comprised 16 prelingually deaf children implanted between 8 months and 10 years of age. Group 2 comprised 74 postlingually deaf adults (average age of 62 years). All patients were users of the Nucleus 24RECA (Freedom, Contour Advance-of-Stylet electrode) cochlear implant. All measurements were performed at the fifth implant programming session at 4-6 months after surgery, when stable T/C thresholds have already been obtained. RESULTS: The behavioural C-levels present important and statistically significant differences between the pre- and postlingually implanted patients for all electrode contacts that could reach 30 CL. For the T-levels the observed differences were smaller and statistically insignificant for most electrode contacts. CONCLUSIONS: The previous auditory experience (pre- or postlingual deafness) seems to be an independent parameter influencing the T/C-levels in patients receiving a CI. Together with the electrode contact impedance and the contact position in the electrode array it can explain up to 37% of the variability in the definition of the C-levels. The fact that the stabilised C-levels measured 4-6 months postoperatively can be up to 30 CL higher in the prelingually deaf patients than in the postlingual ones results also in a much higher dynamic range observed in prelingual subjects. Therefore implant programming of the prelingual patients should be very cautious in order to avoid the risk of overstimulation.


Assuntos
Percepção Auditiva/fisiologia , Limiar Auditivo/fisiologia , Implante Coclear , Implantes Cocleares , Surdez/fisiopatologia , Surdez/psicologia , Córtex Auditivo , Vias Auditivas , Criança , Pré-Escolar , Surdez/terapia , Impedância Elétrica , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Estudos Retrospectivos
17.
Int J Pediatr Otorhinolaryngol ; 131: 109864, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31927147

RESUMO

INTRODUCTION: Objective techniques for hearing threshold estimation in infants and children with profound or severe hearing loss play a key role in pediatric audiology to prevent speech acquisition disorders by choosing the adequate therapy. Auditory brainstem responses and auditory steady-state responses are available for frequency-dependent hearing threshold estimations and both techniques show strong correlations. However, various systems and stimuli are available, which is one reason why comparison is challenging, and, so far, no single "gold standard" could be established for hearing threshold estimation in children suffering from profound or severe hearing loss. The aim of the study was to compare hearing threshold estimations in children with profound or severe hearing loss derived with narrow-band CE-chirps evoked auditory brainstem responses and auditory steady-state response. SUBJECTS: and Methods: 71 children (121 ears) with an age from 3 month to 15 years were measured with the Interacoustics Eclipse EP25 ABR system® (Denmark) with narrow-band CE-chirps® at 500, 1000, 2000 and 4000 Hz under identical conditions. RESULTS: Auditory brainstem responses and auditory steady-state responses highly correlate (r = 0.694, p < 0.001). Correlation coefficients differ depending on the center frequency and patient age. Generally, auditory steady-state responses show a better hearing threshold than auditory brainstem responses or a remaining hearing threshold when auditory brainstem responses could not be obtained. In approximately 15% of cases this would have affected the therapeutic strategy when only taking one technique into account. CONCLUSION: Auditory brainstem responses and auditory steady-state responses should be jointly used in the diagnostic approach in children with suspected profound or severe hearing loss.


Assuntos
Limiar Auditivo , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Potenciais Evocados Auditivos , Perda Auditiva/diagnóstico , Adolescente , Limiar Auditivo/fisiologia , Criança , Pré-Escolar , Surdez/diagnóstico , Surdez/fisiopatologia , Feminino , Audição/fisiologia , Perda Auditiva/fisiopatologia , Humanos , Lactente , Masculino , Distúrbios da Fala/prevenção & controle
18.
Brain ; 143(1): 112-130, 2020 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-31794024

RESUMO

The conserved transport protein particle (TRAPP) complexes regulate key trafficking events and are required for autophagy. TRAPPC4, like its yeast Trs23 orthologue, is a core component of the TRAPP complexes and one of the essential subunits for guanine nucleotide exchange factor activity for Rab1 GTPase. Pathogenic variants in specific TRAPP subunits are associated with neurological disorders. We undertook exome sequencing in three unrelated families of Caucasian, Turkish and French-Canadian ethnicities with seven affected children that showed features of early-onset seizures, developmental delay, microcephaly, sensorineural deafness, spastic quadriparesis and progressive cortical and cerebellar atrophy in an effort to determine the genetic aetiology underlying neurodevelopmental disorders. All seven affected subjects shared the same identical rare, homozygous, potentially pathogenic variant in a non-canonical, well-conserved splice site within TRAPPC4 (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G). Single nucleotide polymorphism array analysis revealed there was no haplotype shared between the tested Turkish and Caucasian families suggestive of a variant hotspot region rather than a founder effect. In silico analysis predicted the variant to cause aberrant splicing. Consistent with this, experimental evidence showed both a reduction in full-length transcript levels and an increase in levels of a shorter transcript missing exon 3, suggestive of an incompletely penetrant splice defect. TRAPPC4 protein levels were significantly reduced whilst levels of other TRAPP complex subunits remained unaffected. Native polyacrylamide gel electrophoresis and size exclusion chromatography demonstrated a defect in TRAPP complex assembly and/or stability. Intracellular trafficking through the Golgi using the marker protein VSVG-GFP-ts045 demonstrated significantly delayed entry into and exit from the Golgi in fibroblasts derived from one of the affected subjects. Lentiviral expression of wild-type TRAPPC4 in these fibroblasts restored trafficking, suggesting that the trafficking defect was due to reduced TRAPPC4 levels. Consistent with the recent association of the TRAPP complex with autophagy, we found that the fibroblasts had a basal autophagy defect and a delay in autophagic flux, possibly due to unsealed autophagosomes. These results were validated using a yeast trs23 temperature sensitive variant that exhibits constitutive and stress-induced autophagic defects at permissive temperature and a secretory defect at restrictive temperature. In summary we provide strong evidence for pathogenicity of this variant in a member of the core TRAPP subunit, TRAPPC4 that associates with vesicular trafficking and autophagy defects. This is the first report of a TRAPPC4 variant, and our findings add to the growing number of TRAPP-associated neurological disorders.


Assuntos
Autofagia/genética , Anormalidades Craniofaciais/genética , Fibroblastos/metabolismo , Proteínas do Tecido Nervoso/genética , Transtornos do Neurodesenvolvimento/genética , Proteínas de Transporte Vesicular/genética , Atrofia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/patologia , Criança , Pré-Escolar , Anormalidades Craniofaciais/diagnóstico por imagem , Surdez/genética , Surdez/fisiopatologia , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Epilepsia/genética , Epilepsia/fisiopatologia , Feminino , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Masculino , Microcefalia/genética , Microcefalia/fisiopatologia , Microscopia de Fluorescência , Espasticidade Muscular/genética , Espasticidade Muscular/fisiopatologia , Transtornos do Neurodesenvolvimento/fisiopatologia , Linhagem , Quadriplegia/genética , Quadriplegia/fisiopatologia , Sítios de Splice de RNA/genética , Síndrome
19.
Brain Struct Funct ; 225(1): 129-148, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31781971

RESUMO

Visual cortex (VC) over-activation analysed by evoked responses has been demonstrated in congenital deafness and after long-term acquired hearing loss in humans. However, permanent hearing deprivation has not yet been explored in animal models. Thus, the present study aimed to examine functional and molecular changes underlying the visual and auditory cross-modal reaction. For such purpose, we analysed cortical visual evoked potentials (VEPs) and the gene expression (RT-qPCR) of a set of markers for neuronal activation (c-Fos) and activity-dependent homeostatic compensation (Arc/Arg3.1). To determine the state of excitation and inhibition, we performed RT-qPCR and quantitative immunocytochemistry for excitatory (receptor subunits GluA2/3) and inhibitory (GABAA-α1, GABAB-R2, GAD65/67 and parvalbumin-PV) markers. VC over-activation was demonstrated by a significant increase in VEPs wave N1 and by up-regulation of the activity-dependent early genes c-Fos and Arc/Arg3.1 (thus confirming, by RT-qPCR, our previously published immunocytochemical results). GluA2 gene and protein expression were significantly increased in the auditory cortex (AC), particularly in layers 2/3 pyramidal neurons, but inhibitory markers (GAD65/67 and PV-GABA interneurons) were also significantly upregulated in the AC, indicating a concurrent increase in inhibition. Therefore, after permanent hearing loss in the rat, the VC is not only over-activated but also potentially balanced by homeostatic regulation, while excitatory and inhibitory markers remain imbalanced in the AC, most likely resulting from changes in horizontal intermodal regulation.


Assuntos
Córtex Auditivo/fisiologia , Percepção Auditiva/fisiologia , Surdez/fisiopatologia , Neurônios/fisiologia , Privação Sensorial/fisiologia , Córtex Visual/fisiologia , Percepção Visual/fisiologia , Animais , Córtex Auditivo/metabolismo , Potenciais Evocados Auditivos do Tronco Encefálico , Potenciais Evocados Visuais , Expressão Gênica , Glutamato Descarboxilase/metabolismo , Parvalbuminas/metabolismo , Ratos Wistar , Receptores de AMPA/metabolismo , Córtex Visual/metabolismo
20.
Laryngoscope ; 130(7): 1805-1811, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-31710701

RESUMO

OBJECTIVES: To evaluate the long-term audiometric outcomes, sound localization abilities, binaural benefits, and tinnitus assessment of subjects with cochlear implant (CI) after a diagnosis of unilateral severe-to-profound hearing loss. METHOD: The study group consisted of 60 (mean age 52 years, range 19-84) subjects with profound hearing loss in one ear and normal to near-normal hearing in the other ear who underwent CI. Data analysis included pre- and postoperative Consonant-Nucleus-Consonant (CNC) Word scores, AzBio Sentence scores, pure tone thresholds, sound localization, and Iowa Tinnitus Handicap Questionnaire scores. RESULTS: Preoperative average duration of deafness was 3.69 years (standard deviation 4.31), with an average follow-up time of 37.9 months (range 1-87). CNC and AzBio scores significantly improved (both P < 0.001) postoperatively among the entire cohort, and there was much heterogeneity in outcomes with respect to deafness etiology subgroup analysis. Sound localization abilities tended to improve longitudinally in the entire cohort. Binaural benefits using an adaptive Hearing in Noise Test test showed a significant (P < 0.001) improvement with head shadow effect. Utilizing the Iowa Tinnitus Handicap Questionnaire, there was significant improvement in social, physical, and emotional well-being (P = 0.011), along with hearing abilities (P = 0.001). CONCLUSIONS: This case series is the largest cohort of CI SSD subjects to date and systematically analyzes their functional outcomes. Subjects have meaningful improvement in word understanding, and sound localization tends to gradually improve over time. Binaural benefit analysis showed significant improvement with head shadow effect, which likely provides ease of listening. LEVEL OF EVIDENCE: 4 Laryngoscope, 130:1805-1811, 2020.


Assuntos
Audiometria/métodos , Implante Coclear , Surdez/cirurgia , Audição/fisiologia , Percepção da Fala/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Surdez/fisiopatologia , Seguimentos , Humanos , Pessoa de Meia-Idade , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
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