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1.
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
2.
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
3.
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
4.
Brain Lang ; 200: 104708, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31698097

RESUMO

One of the key questions in the study of human language acquisition is the extent to which the development of neural processing networks for different components of language are modulated by exposure to linguistic stimuli. Sign languages offer a unique perspective on this issue, because prelingually Deaf children who receive access to complex linguistic input later in life provide a window into brain maturation in the absence of language, and subsequent neuroplasticity of neurolinguistic networks during late language learning. While the duration of sensitive periods of acquisition of linguistic subsystems (sound, vocabulary, and syntactic structure) is well established on the basis of L2 acquisition in spoken language, for sign languages, the relative timelines for development of neural processing networks for linguistic sub-domains are unknown. We examined neural responses of a group of Deaf signers who received access to signed input at varying ages to three linguistic phenomena at the levels of classifier signs, syntactic structure, and information structure. The amplitude of the N400 response to the marked word order condition negatively correlated with the age of acquisition for syntax and information structure, indicating increased cognitive load in these conditions. Additionally, the combination of behavioral and neural data suggested that late learners preferentially relied on classifiers over word order for meaning extraction. This suggests that late acquisition of sign language significantly increases cognitive load during analysis of syntax and information structure, but not word-level meaning.


Assuntos
Envelhecimento , Surdez/fisiopatologia , Surdez/psicologia , Eletroencefalografia , Desenvolvimento da Linguagem , Aprendizagem/fisiologia , Linguística , Línguas de Sinais , Adulto , Potenciais Evocados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Plasticidade Neuronal , Vocabulário
5.
World Neurosurg ; 134: 564-568, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31765866

RESUMO

BACKGROUND: Contralateral sudden sensorineural hearing loss (SNHL) after vestibular schwannoma (VS) surgery is extremely rare, and the mechanism of hearing loss remains unclear. This report aims to provide details of a new case of contralateral SNHL after VS resection, discuss the possible causes of SNHL, and review the relevant literature. CASE DESCRIPTION: A 32-year-old woman developed sudden, profound SNHL after VS surgery. She gradually recovered partial hearing after 6 months of steroid, vasodilator, and neurotrophic therapy. CONCLUSIONS: Compensatory endolymphatic hydrops caused by the loss of cerebrospinal fluid might be responsible for this case of sudden SNHL following VS surgery.


Assuntos
Perda Auditiva Neurossensorial/etiologia , Neurilemoma/cirurgia , Neuroma Acústico/cirurgia , Complicações Pós-Operatórias/etiologia , Adulto , Surdez/diagnóstico , Surdez/fisiopatologia , Feminino , Audição/fisiologia , Perda Auditiva Neurossensorial/diagnóstico , Testes Auditivos/métodos , Humanos , Neuroma Acústico/diagnóstico , Complicações Pós-Operatórias/diagnóstico
6.
Behav Neurol ; 2019: 1630718, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31871493

RESUMO

The advent of cochlear implants has enormously improved the quality of sensory perception in deaf children. Notwithstanding these advantages, the current literature shows a substantial variability in language proficiency among implanted children. This case series explores the variability of language acquisition in congenitally deaf children with cochlear implants. We report 4 prelingually deaf children (mean age = 10.5; SD = 1.08), affected by a genetically determined bilateral deafness, due to GJB2 gene mutation Cx26. Each implanted child underwent a systematic assessment of speech perception and production, as well as of lexical, morphologic, and syntactic skills in both comprehension and production. Notwithstanding similar clinical histories and similarly good postimplant pure-tone audiometry, two of the four children fared very poorly in speech audiometry, whereas the other two children gained very good results. We suggest that the language impairment detected in (some) implanted children may not be fully accounted for by pure auditory thresholds and that may be the outcome of concomitant damage to core components of the child's linguistic brain.


Assuntos
Desenvolvimento Infantil/fisiologia , Desenvolvimento da Linguagem , Linguística/métodos , Audiometria da Fala/métodos , Criança , Implante Coclear/métodos , Implantes Cocleares/psicologia , Conexinas/genética , Conexinas/metabolismo , Surdez/fisiopatologia , Feminino , Humanos , Masculino , Percepção da Fala/fisiologia
7.
J Int Adv Otol ; 15(3): 352-357, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31846911

RESUMO

OBJECTIVES: Jervell and Lange-Nielsen syndrome is a rare autosomal recessive disease characterized by congenital sensorineural deafness and significant QT interval prolongation. Aims were to study the prevalence of long QT in congenital hearing loss, complications encountered, outcomes by Categories of auditory Performance (CAP) scores and Speech Intelligibility Rating (SIR) scores and to create an algorithm with precautions to be followed in Long QT children. MATERIALS AND METHODS: Study was done at Auditory implant center at a tertiary referral care ENT hospital which includes 41 paediatric patients who were diagnosed to have Long QT during preoperative assessment and underwent cochlear implantation. A standard Protocol was followed in all candidates which includes comprehensive targeted history and investigations, preoperative and intraoperative precautions, and the findings were recorded. RESULTS: Preoperative prophylactic Beta blockers, avoiding sympathetic stimulation and drugs prolonging QT interval with rational use of Magnesium Sulphate and standby of defibrillator were the standard precautions practised. Fatal Arrhythmias were encountered intra-operatively in five patients which was treated with cardiac pacing. Cardiac monitoring was done intraoperatively and during switch-on. Significant improvement in CAP and SIR scores were observed at 3 and 6 months when compared to their base line values. CONCLUSION: With special attention to preoperative evaluation, appropriate intraoperative precautions and monitoring, judicious surgical planning and post surgical follow-up cochlear implantation may be performed safely in patients with JLNS with good postoperative results allowing for improved audition.


Assuntos
Implante Coclear/métodos , Surdez/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Síndrome de Jervell-Lange Nielsen/cirurgia , Percepção Auditiva , Pré-Escolar , Surdez/congênito , Surdez/fisiopatologia , Feminino , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Síndrome de Jervell-Lange Nielsen/complicações , Síndrome de Jervell-Lange Nielsen/fisiopatologia , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Inteligibilidade da Fala , Resultado do Tratamento
8.
PLoS One ; 14(9): e0221891, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31513606

RESUMO

In low-level perceptual tasks and reading tasks, deaf individuals show a redistribution of spatial visual attention toward the parafoveal and peripheral visual fields. In the present study, the experiment adopted the modified flanker paradigm and utilized a lexical decision task to investigate how these unique visual skills may influence foveal lexical access in deaf individuals. It was predicted that irrelevant linguistic stimuli presented in parafoveal vision, during a lexical decision task, would produce a larger interference effect for deaf college student readers if the stimuli acted as distractors during the task. The results showed there was a larger interference effect in deaf college student readers compared to the interference effect observed in participants with typical levels of hearing. Furthermore, deaf college student readers with low-skilled reading levels showed a larger interference effect than those with high-skilled reading levels. The current study demonstrates that the redistribution of spatial visual attention toward the parafoveal visual regions in deaf students impacts foveal lexical processing, and this effect is modulated by reading skill. The findings are discussed in relation to the potential effect that enhanced parafoveal attention may have on everyday reading for deaf individuals.


Assuntos
Surdez/psicologia , Fóvea Central/fisiopatologia , Pessoas com Deficiência Auditiva/psicologia , Estudantes/psicologia , Adolescente , Atenção , Estudos de Casos e Controles , Surdez/fisiopatologia , Educação de Pessoas com Deficiência Auditiva , Feminino , Humanos , Testes de Linguagem , Masculino , Leitura , Reconhecimento Psicológico , Semântica , Navegação Espacial , Adulto Jovem
9.
J Int Adv Otol ; 15(2): 215-221, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31418713

RESUMO

OBJECTIVES: This study aims to compare the electrical auditory brainstem response (EABR) following cochlear implant (CI) surgery in pediatric subjects with cochlear malformation and a normal cochlea, in order to assess the sensitivity of EABR and to evaluate the surgery outcome. MATERIALS AND METHODS: A total of 26 pediatric subjects who were deaf and scheduled for CI surgery were enrolled into this case control study. Group A (n=20) included subjects with a normo-conformed cochlea. Group B (n=6) included subjects with cochlear malformation. Subjects were evaluated with EABR immediately (T0) and 6 months (T1) post-CI surgery. The EABR Waves III and V average amplitude and latency were compared across time, separately for each group, and across groups, separately for each time. RESULTS: Auditory brainstem response (ABR) could only be recorded in Group A. We were able to record EABR from all subjects at T0 and T1, and waves III and V were present in all the recorded signals. There were no statistically significant differences between T0 and T1 in EABR Waves III and V in terms of average amplitude and latency in neither group. When comparing Groups A and B, the only statistically significant difference was the average amplitude of wave V, both at T0 and T1. CONCLUSION: EABR is a valid tool to measure the auditory nerve integrity after CI surgery in patients with a normal and malformed cochlea, as shown by its ability to measure waves III and V when ABR is absent. The EABR testing should be performed before and after CI surgery, and EABR should be used as a measure of outcome, especially in patients with a malformed cochlea.


Assuntos
Cóclea/anormalidades , Implantes Cocleares , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Estudos de Casos e Controles , Pré-Escolar , Cóclea/cirurgia , Nervo Coclear/fisiologia , Surdez/fisiopatologia , Surdez/cirurgia , Feminino , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Emissões Otoacústicas Espontâneas/fisiologia , Complicações Pós-Operatórias/fisiopatologia , Tempo de Reação/fisiologia , Tomografia Computadorizada por Raios X
10.
Chin Med J (Engl) ; 132(16): 1925-1934, 2019 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-31365431

RESUMO

BACKGROUND: The development of auditory and speech perception ability of children with hearing loss is affected by many factors after they undergo cochlear implantation (CI). Age at CI (CI age) appears to play an important role among these factors. This study aimed to evaluate the development of auditory and speech perception ability and explore the impact of CI age on children with pre-lingual deafness present before 3 years of age. METHODS: Two hundred and seventy-eight children with pre-lingual deafness (176 boys and 102 girls) were included in this study, and the CI age ranged from 6 to 36 months (mean age, 19 months). Categorical auditory performance (CAP) was assessed to evaluate auditory ability, and the speech intelligibility rating was used to evaluate speech intelligibility. The evaluations were performed before CI and 1, 3, 6, 12, 18, 24, 36, 48, and 60 months after CI. RESULTS: The auditory ability of the pre-lingually hearing-impaired children showed the fastest development within 6 months after CI (k = 0.524, t = 30.992, P < 0.05); then, the progress started to decelerate (k = 0.14, t = 3.704, P < 0.05) and entered a plateau at the 24th month (k = 0.03, t = 1.908, P < 0.05). Speech intelligibility showed the fastest improvement between the 12th and 24th months after CI (k = 0.138, t = 5.365, P < 0.05); then, the progress started to decelerate (k = 0.026, t = 1.465, P < 0.05) and entered a plateau at the 48th month (k = 0.012, t = 1.542, P < 0.05). The CI age had no statistical significant effect on the auditory and speech abilities starting at 2 years after CI (P > 0.05). The optimal cutoff age for CI was 15 months. CONCLUSIONS: Within 5 years after CI, the auditory and speech ability of young hearing-impaired children continuously improved, although speech development lagged behind that of hearing. An earlier CI age is recommended; the optimal cutoff age for CI is at 15 months.


Assuntos
Implante Coclear , Surdez/fisiopatologia , Surdez/cirurgia , Inteligibilidade da Fala/fisiologia , Pré-Escolar , Implantes Cocleares , Feminino , Humanos , Lactente , Modelos Lineares , Masculino , Percepção da Fala/fisiologia , Resultado do Tratamento
11.
J Psycholinguist Res ; 48(6): 1319-1338, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31399872

RESUMO

Deaf and hard-of-hearing (DHH) learners are known to have vocabulary knowledge and language outcomes more heterogeneous than their hearing peers, with a greater incidence of difficulties presumably related (both as cause and effect) to documented challenges in academic domains. In particular, there is increasing evidence that differences may exist in the ways that semantic networks are structured and accessed in DHH and hearing learners. Individuals' judgments of word typicality offers a window into their semantic networks, revealing internal relationships in the mental lexicon. In the present study, 90 DHH and hearing college-aged learners provided typicality ratings at two points in time for 120 words common words considered to be central, borderline, or non-members of six categories. DHH and hearing participants differed in terms of their word knowledge, rating consistency, and rating magnitudes. Relative to hearing peers, DHH participants reported not knowing more of the words, but rated all words as being more typical than did hearing participants and rated the typicality of items more consistently over time. Implications of these findings for understanding mental lexicon structure for DHH and hearing learners, interpreting previous research, and constructing stimuli for future research are discussed.


Assuntos
Formação de Conceito/fisiologia , Perda Auditiva/fisiopatologia , Psicolinguística , Vocabulário , Adulto , Surdez/fisiopatologia , Feminino , Humanos , Masculino , Semântica , Adulto Jovem
12.
EBioMedicine ; 45: 408-421, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31257146

RESUMO

BACKGROUND: Dominant deafness-onychodystrophy (DDOD) syndrome is a rare disorder mainly characterized by severe deafness, onychodystrophy and brachydactyly. We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. Clinical follow-up of DDOD syndrome patients with cochlear implantation revealed the language rehabilitation was unsatisfactory although the implanted cochlea worked well, which indicates there might be learning and memory problems in DDOD syndrome patients. However, the underlying mechanisms were unknown. METHODS: atp6v1b2 knockdown zebrafish and Atp6v1b2 c.1516C > T knockin mice were constructed to explore the phenotypes and related mechanism. In mutant mice, auditory brainstem response test and cochlear morphology analysis were performed to evaluate the auditory function. Behavioral tests were used to investigate various behavioral and cognitive domains. Resting-state functional magnetic resonance imaging was used to evaluate functional connectivity in the mouse brain. Immunofluorescence, Western blot, and co-immunoprecipitation were performed to examine the expression and interactions between the subunits of V-ATPases. FINDINGS: atp6v1b2 knockdown zebrafish showed developmental defects in multiple organs and systems. However, Atp6v1b2 c.1516C > T knockin mice displayed obvious cognitive defects but normal hearing and cochlear morphology. Impaired hippocampal CA1 region and weaker interaction between the V1E and B2 subunits in Atp6v1b2Arg506X//Arg506X mice were observed. INTERPRETATION: Our study extends the phenotypic range of DDOD syndrome. The impaired hippocampal CA1 region may be the pathological basis of the behavioral defects in mutant mice. The molecular mechanism underlying V-ATPases dysfunction involves a weak interaction between subunits, although the assembly of V-ATPases can still take place.


Assuntos
Surdez/genética , Deficiência Intelectual/genética , ATPases Vacuolares Próton-Translocadoras/genética , Adulto , Animais , Cóclea , Surdez/fisiopatologia , Modelos Animais de Doenças , Feminino , Técnicas de Silenciamento de Genes , Humanos , Lactente , Deficiência Intelectual/fisiopatologia , Masculino , Camundongos , Camundongos Transgênicos , Linhagem , Fenótipo , Peixe-Zebra/genética
13.
Audiol Neurootol ; 24(3): 139-146, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31291620

RESUMO

OBJECTIVES: To assess the auditory outcomes and skills of pediatric cochlear implant (CI) users with the CHARGE syndrome. To determine the influence of inner ear malformations on the surgical procedure and speech understanding outcomes in this population. STUDY DESIGN: Observational, retrospective study. MATERIALS AND METHODS: Imaging, auditory testing, intraoperative findings, complications, and postoperative auditory skills and outcomes of pediatric CI users with CHARGE syndrome were recorded. RESULTS: 6 children (8 ears) were included, 5 of whom had prelingual deafness. Their mean age at implantation was 37 months. Six of the 8 ears presented cochlear malformation; the most frequent was hypoplasia type III. Intraoperatively, the transmastoid facial recess approach was used in 5 ears, and abnormalities of facial nerve anatomy were found in 5 ears. All electrode insertions were complete. All children were, to a varying degree, able to detect and identify sound. Verbalization skills were developed by 2 children, 1 of whom used oral language as his primary mode of communication. CONCLUSIONS: Cochlear implantation performed by an experienced surgeon in patients with the CHARGE syndrome is a safe procedure with adequate treatment planning. All children had improved auditory skills although the improvement was variable.


Assuntos
Síndrome CHARGE/cirurgia , Implante Coclear , Surdez/cirurgia , Audição/fisiologia , Síndrome CHARGE/fisiopatologia , Pré-Escolar , Implantes Cocleares , Surdez/fisiopatologia , Feminino , Testes Auditivos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento
14.
Genes (Basel) ; 10(6)2019 06 05.
Artigo em Inglês | MEDLINE | ID: mdl-31195736

RESUMO

Mutations in the GJB2 gene are the main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) in many populations. GJB2 mutational spectrum and pathogenic contribution are widely varying in different populations. Significant efforts have been made worldwide to define DFNB1A molecular epidemiology, but this issue still remains open for some populations. The main aim of study is to estimate the DFNB1A prevalence and GJB2 mutational spectrum in Tuvinians-an indigenous population of the Tyva Republic (Southern Siberia, Russia). Sanger sequencing was applied to analysis of coding (exon 2) and non-coding regions of GJB2 in a cohort of Tuvinian patients with hearing impairments (n = 220) and ethnically matched controls (n = 157). Diagnosis of DFNB1A was established for 22.3% patients (28.8% of familial vs 18.6% of sporadic cases). Our results support that patients with monoallelic GJB2 mutations (8.2%) are coincidental carriers. Recessive mutations p.Trp172Cys, c.-23+1G>A, c.235delC, c.299_300delAT, p.Val37Ile and several benign variants were found in examined patients. A striking finding was a high prevalence of rare variant p.Trp172Cys (c.516G>C) in Tuvinians accounting for 62.9% of all mutant GJB2 alleles and a carrier frequency of 3.8% in controls. All obtained data provide important targeted information for genetic counseling of affected Tuvinian families and enrich current information on variability of GJB2 worldwide.


Assuntos
Conexinas/genética , Surdez/genética , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/genética , Adolescente , Adulto , Idoso , Alelos , Criança , Conexinas/química , Surdez/epidemiologia , Surdez/fisiopatologia , Éxons , Feminino , Estudos de Associação Genética , Genótipo , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/fisiopatologia , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Federação Russa , Sibéria/epidemiologia , Relação Estrutura-Atividade , Adulto Jovem
15.
Neuroimage ; 200: 231-241, 2019 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-31220577

RESUMO

The study of deaf and hearing native users of signed languages can offer unique insights into how biological constraints and environmental input interact to shape the neural bases of language processing. Here, we use functional magnetic resonance imaging (fMRI) to address two questions: (1) Do semantic and syntactic processing in a signed language rely on anatomically and functionally distinct neural substrates as it has been shown for spoken languages? and (2) Does hearing status affect the neural correlates of these two types of linguistic processing? Deaf and hearing native signers performed a sentence judgement task on German Sign Language (Deutsche Gebärdensprache: DGS) sentences which were correct or contained either syntactic or semantic violations. We hypothesized that processing of semantic and syntactic violations in DGS relies on distinct neural substrates as it has been shown for spoken languages. Moreover, we hypothesized that effects of hearing status are observed within auditory regions, as deaf native signers have been shown to activate auditory areas to a greater extent than hearing native signers when processing a signed language. Semantic processing activated low-level visual areas and the left inferior frontal gyrus (IFG), suggesting both modality-dependent and independent processing mechanisms. Syntactic processing elicited increased activation in the right supramarginal gyrus (SMG). Moreover, psychophysiological interaction (PPI) analyses revealed a cluster in left middle occipital regions showing increased functional coupling with the right SMG during syntactic relative to semantic processing, possibly indicating spatial processing mechanisms that are specific to signed syntax. Effects of hearing status were observed in the right superior temporal cortex (STC): deaf but not hearing native signers showed greater activation for semantic violations than for syntactic violations in this region. Taken together, the present findings suggest that the neural correlates of language processing are partly determined by biological constraints, but that they may additionally be influenced by the unique processing demands of the language modality and different sensory experiences.


Assuntos
Córtex Cerebral/fisiologia , Surdez/fisiopatologia , Psicolinguística , Línguas de Sinais , Adulto , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/fisiopatologia , Surdez/diagnóstico por imagem , Feminino , Alemanha , Humanos , Imagem por Ressonância Magnética , Masculino , Lobo Parietal/diagnóstico por imagem , Lobo Parietal/fisiologia , Córtex Pré-Frontal/diagnóstico por imagem , Córtex Pré-Frontal/fisiologia , Semântica , Córtex Visual/diagnóstico por imagem , Córtex Visual/fisiologia
16.
Proc Natl Acad Sci U S A ; 116(24): 11705-11711, 2019 06 11.
Artigo em Inglês | MEDLINE | ID: mdl-31138681

RESUMO

Logical properties such as negation, implication, and symmetry, despite the fact that they are foundational and threaded through the vocabulary and syntax of known natural languages, pose a special problem for language learning. Their meanings are much harder to identify and isolate in the child's everyday interaction with referents in the world than concrete things (like spoons and horses) and happenings and acts (like running and jumping) that are much more easily identified, and thus more easily linked to their linguistic labels (spoon, horse, run, jump). Here we concentrate attention on the category of symmetry [a relation R is symmetrical if and only if (iff) for all x, y: if R(x,y), then R(y,x)], expressed in English by such terms as similar, marry, cousin, and near After a brief introduction to how symmetry is expressed in English and other well-studied languages, we discuss the appearance and maturation of this category in Nicaraguan Sign Language (NSL). NSL is an emerging language used as the primary, daily means of communication among a population of deaf individuals who could not acquire the surrounding spoken language because they could not hear it, and who were not exposed to a preexisting sign language because there was none available in their community. Remarkably, these individuals treat symmetry, in both semantic and syntactic regards, much as do learners exposed to a previously established language. These findings point to deep human biases in the structures underpinning and constituting human language.


Assuntos
Aprendizagem/fisiologia , Línguas de Sinais , Adulto , Comunicação , Surdez/fisiopatologia , Feminino , Humanos , Desenvolvimento da Linguagem , Linguística/métodos , Masculino , Semântica , Vocabulário , Adulto Jovem
17.
J Diabetes Res ; 2019: 5184647, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31143779

RESUMO

Background: The syndrome of maternally inherited diabetes and deafness (MIDD) is typically caused by the m.3243A>G mutation and widely considered maternally inherited. In our study, we aimed to investigate the heredity way of the m.3243A>G among pedigrees with MIDD and discover novel mitochondrial DNA mutations related to atypical clinical phenotypes. Methods: Heteroplasmy levels of the m.3243A>G mutation in peripheral blood, saliva, and urine sediment of 31 individuals from 10 unrelated pedigrees were measured by pyrosequencing. Clinical evaluations including endocrinological, audiological, and magnetic resonance imaging (MRI) examinations, mitochondrial function evaluation in peripheral blood mononuclear cells (PBMCs), and whole mitochondrial DNA (mtDNA) sequencing were performed among the spontaneous mutant pedigrees. Results: Among the 10 unrelated MIDD pedigrees, we found that the de novo m.3243A>G mutation occurred in the family 1957 (F1957). The proband (F1957-II-1) and her son (F1957-III-1) both manifested diabetes with mild bilateral sensorineural hearing loss (SNHL) and abnormal brain MRI, and F1957-III-1 also complained of severe nausea and vomiting. Mitochondrial function evaluation in PBMCs revealed an increased level of ROS generation and decreased levels of ATP and mitochondrial membrane potential (ΔΨm) in the two m.3243A>G carriers. Whole mtDNA sequencing also revealed a de novo heteroplasmic substitution at m.16093T>C in both the proband and her son. Conclusions: Our study showed that de novo m.3243A>G mutation accompanied by other point mutations may occur in the very early embryonic or germ cell stage without maternal inheritance, bringing about both typical and atypical clinical features.


Assuntos
DNA Mitocondrial/genética , Surdez/genética , Surdez/fisiopatologia , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/fisiopatologia , Leucina/genética , Doenças Mitocondriais/genética , Doenças Mitocondriais/fisiopatologia , RNA de Transferência/genética , Trifosfato de Adenosina/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Saúde da Família , Feminino , Predisposição Genética para Doença , Humanos , Leucócitos Mononucleares/citologia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Fenótipo , Mutação Puntual , Espécies Reativas de Oxigênio/metabolismo , Análise de Sequência de DNA
18.
Neurosci Lett ; 707: 134283, 2019 08 10.
Artigo em Inglês | MEDLINE | ID: mdl-31129079

RESUMO

The functions of the sensory systems on disabled people have been one of the most investigated topics in brain research. In these studies, mostly visual stimuli had been employed while investigating the deaf participants. Limited number of electrophysiological studies revealed better visual sensory processing in deaf participants. On the other hand, studies deploying tactile stimuli especially used either electrical or painful stimulus or they focused the psychophysical assessments of thresholds associated with tactile stimuli. The present study tried to evaluate electrophysiological brain responses in deaf and control group with a unimodal study design including both the visual and non-painful tactile stimuli, and to reveal the possible changes in brain plasticity within modality basis. Thirteen congenitally deaf adolescents (mean: 14.61 ±â€¯1.06 years; 7 girls) and 10 adolescents with normal hearing (16.6 ±â€¯2.72 years; 4 girls) were recruited for the study. Somatosensory evoked potentials (SEP) and visual evoked potentials (VEP) were separately delivered to the participants and in order to maintain neutrality among sessions they were presented in random order while the electroencephalography (EEG) recordings were taken. Brain responses to non-painful tactile and visual stimuli were measured for N1, P2, and N2 components. All amplitudes of deaf group were significantly larger than all amplitudes of control group in SEP session whereas in VEP session only P2 and N2 amplitudes of deaf group were statistically larger. In addition, the latency of N1 component in VEP session was significantly earlier in deaf group. These findings suggest early cortical excitability, less neuronal capacity usage and also more efficient sensory processing in deaf group.


Assuntos
Surdez/fisiopatologia , Potenciais Somatossensoriais Evocados , Potenciais Evocados Visuais , Adolescente , Estudos de Casos e Controles , Surdez/psicologia , Eletroencefalografia , Feminino , Humanos , Masculino , Estimulação Luminosa , Tato
19.
Genes Cells ; 24(8): 534-545, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31141264

RESUMO

Zinc-finger transcription factors GATA2 and GATA3 are both expressed in the developing inner ear, although their overlapping versus distinct activities in adult definitive inner ear are not well understood. We show here that GATA2 and GATA3 are co-expressed in cochlear spiral ganglion cells and redundantly function in the maintenance of spiral ganglion cells and auditory neural circuitry. Notably, Gata2 and Gata3 compound heterozygous mutant mice had a diminished number of spiral ganglion cells due to enhanced apoptosis, which resulted in progressive hearing loss. The decrease in spiral ganglion cellularity was associated with lowered expression of neurotrophin receptor TrkC that is an essential factor for spiral ganglion cell survival. We further show that Gata2 null mutants that additionally bear a Gata2 YAC (yeast artificial chromosome) that counteracts the lethal hematopoietic deficiency due to complete Gata2 loss nonetheless failed to complement the deficiency in neonatal spiral ganglion neurons. Furthermore, cochlea-specific Gata2 deletion mice also had fewer spiral ganglion cells and resultant hearing impairment. These results show that GATA2 and GATA3 redundantly function to maintain spiral ganglion cells and hearing. We propose possible mechanisms underlying hearing loss in human GATA2- or GATA3-related genetic disorders.


Assuntos
Surdez/etiologia , Fatores de Transcrição GATA/metabolismo , Gânglio Espiral da Cóclea/metabolismo , Animais , Apoptose/genética , Contagem de Células , Cóclea/metabolismo , Cóclea/patologia , Surdez/metabolismo , Surdez/fisiopatologia , Modelos Animais de Doenças , Fatores de Transcrição GATA/genética , Expressão Gênica , Genes Reporter , Imuno-Histoquímica , Camundongos , Camundongos Knockout , Camundongos Transgênicos , Mutação , Células Receptoras Sensoriais/metabolismo , Células Receptoras Sensoriais/patologia , Gânglio Espiral da Cóclea/patologia
20.
Eur Arch Otorhinolaryngol ; 276(7): 1951-1959, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31053967

RESUMO

PURPOSE: Although the cochlear implantation procedure does not interfere with vestibular structures directly, both the vestibulum and the cochlea share the same inner ear fluid space, and this fluid may be responsible for transferring possibly damaging forces from one to the other. The purpose of the study is to assess postoperative vestibular function after partial deafness treatment-electro-acoustic stimulation (PDT-EAS) cochlear implantation. METHODS: Fifty-five patients were included in the study (30 females, 25 males, age 11-80, mean 41.8 ± 19.35). cVEMP and oVEMP were performed preoperatively and 1-3 months after cochlear implantation. Caloric and vHIT tests were conducted preoperatively and 4-6 months after cochlear implantation. RESULTS: Our study shows that, based on a wide range of electrodes, use of PDT-EAS is protective in terms of preserving vestibular function. It gives a rate of saccular damage of 15.79%, utricular damage of 19.04%, and a horizontal semicircular canal response reduction of 15.79%. CONCLUSIONS: PDT-EAS is protective in terms of preserving vestibular function. Nevertheless, it should be emphasized that the risk of vestibular damage cannot be totally eliminated even when hearing preservation techniques are adopted.


Assuntos
Estimulação Acústica/métodos , Cóclea/fisiopatologia , Implante Coclear , Surdez/cirurgia , Complicações Pós-Operatórias , Vestíbulo do Labirinto/fisiopatologia , Adulto , Implante Coclear/efeitos adversos , Implante Coclear/métodos , Surdez/diagnóstico , Surdez/fisiopatologia , Feminino , Testes Auditivos/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/fisiopatologia , Estudos Prospectivos , Recuperação de Função Fisiológica , Resultado do Tratamento
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