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1.
Harefuah ; 159(1): 117-122, 2020 Feb.
Artigo em Hebraico | MEDLINE | ID: mdl-32048492

RESUMO

INTRODUCTION: Deafness is the most common sensory disability in humans affecting all aspects of life. Approximately 50% of congenital deafness is hereditary and about half of genetic deafness is still unsolved. To date, more than 150 genes are known to cause hearing loss worldwide, with specific genes contributing to deafness in distinct populations. Of these, more than 20 genes are involved in deafness among the Jewish Israeli hearing-impaired population. The most common gene in many worldwide populations, including Israel, is GJB2, which encodes the connexin 26 protein. The second most common gene among Jews is TMC1, with most pathogenic variants found only among Jews of Moroccan origin. Most other pathogenic variants found in the Jewish population are origin-specific and not found in other Jewish ethnic groups or in other worldwide populations. In patients where hereditary deafness is suspected, known variants in the specific ethnicity are routinely examined. In Israel, the GJB2 gene is screened in all cases of hereditary deafness and the TMC1 gene is screened in deaf persons of Jewish Moroccan origin. In cases where no variant is found in a known gene, more comprehensive diagnostic tests should be used. Since the beginning of the deep sequencing era, less than a decade ago, the number of deafness-related genes in the Jewish population has increased by threefold. Identifying the pathogenic variant makes it possible to study molecular pathogenesis, to anticipate and understand the prognosis, to calculate probability of concomitant morbidity, to offer prenatal diagnosis, prevent recurrence of deafness in the family and early rehabilitation. Currently, cochlear implant offers the greatest chance for rehabilitation. The hope is that understanding the molecular pathogenesis will in the future lead to personalized medical treatment. We review the genetics of deafness, with an emphasis on the Jewish population in Israel, new diagnostic methods and suggest a diagnostic algorithm and future treatment methods.


Assuntos
Surdez/congênito , Conexina 26 , Humanos , Israel , Judeus , Mutação
3.
Int J Pediatr Otorhinolaryngol ; 126: 109630, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31442870

RESUMO

OBJECTIVES: More than 50% of congenital hearing loss is attributed to genetic factors. Data of gene mutation associated with hearing loss from large population studies in Chinese population are scarce. In this study, we conducted a comprehensive newborn genetic screening in China to establish the carrier frequency and mutation spectrum of deafness-associated genes. METHODS: A total of 53,033 newborns were screened for hearing defects associated mutations. Twenty hot spot mutations in GJB2, GJB3, SLC26A4 and mitochondria12S rRNA were examined using suspension array analysis. RESULTS: 14,185 newborns (26.75%) were identified with at least one mutated allele. 872 (1.64%) neonates carried homozygous mutations including 112 (0.21%) mitochondrial DNA homoplasmy, 228 (0.43%) were compound heterozygotes, and 11,985 (22.59%) were heterozygotes including 11 (0.02%) mitochondrial DNA heteroplasmy. Top five mutations included 109 G > A, 235 delC, 299-300 delAT in GJB2, IVS7-2 A > G in SLC26A4 and 1555 A > G in mitochondria12S rRNA. Notably, a total of 10,995 neonates (20.73%) carried 109 G > A in GJB2. Moreover, the allele frequencies of 109 G > A were detected 11.61% in Guangdong, 10.44% in Sichuan and 2.88% in Shandong, respectively, a significant difference in prevalence among these geographic regions (p<0.01). In addition, the high frequency of 109 G > A in GJB2 was confirmed by a TaqMan probe-based qPCR assay. Very recently, the ClinGen Hearing Loss Expert Panel reached a consensus and confirmed its pathogenic role in hearing impairment. CONCLUSION: We delineated the mutation profile of common deafness-causing genes in the Chinese population and highlighted the high prevalence of 109 G > A pathogenic mutation. Our study may facilitate early diagnosis/intervention and genetic counseling for hearing impairment in clinical practice.


Assuntos
Conexinas/genética , Surdez/genética , Testes Genéticos , Mutação , Triagem Neonatal , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Grupo com Ancestrais do Continente Asiático/genética , China/epidemiologia , Surdez/congênito , Surdez/epidemiologia , Feminino , Frequência do Gene , Heterozigoto , Homozigoto , Humanos , Recém-Nascido , Masculino , Mitocôndrias/genética , Prevalência , RNA Ribossômico/genética , Transportadores de Sulfato/genética
4.
Int J Pediatr Otorhinolaryngol ; 126: 109625, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31442872

RESUMO

OBJECTIVES: A cochlear implant (CI) has the potential to improve the functioning of a deaf child in many aspects. Nevertheless, the dynamics of the general development, beyond the typically measured language abilities, directly after CI, is still unknown, especially if a child is implanted early. In this study we present a methodological framework for assessment of different domains of development, as well as the central auditory nervous system (CANS) maturation in infants and toddlers with a CI. METHODS: Three children with bilateral congenital hearing loss and a unilateral CI, aged below 2.5 years, participated in a longitudinal study. Children were tested at three time points after cochlear implantation using the Polish Children Development Scale (CDS) consisting of a comprehensive battery of tests, as well as recordings of Cortical Auditory Evoked Potentials (CAEP). RESULTS: All three children revealed gradual improvement in the overall CDS result as well as most of the CDS subscales. After 9 months of CI experience two younger children showed age-appropriate performance. In CAEP measurements a decrease of latency of the P1 component (an established biomarker of cortical auditory maturation) was observed in the same two children, with one achieving normal ranges of P1 latency after 9 months of CI use. CONCLUSIONS: Our novel methodological framework can be successfully applied in small children with cochlear implants. It contributes to better understanding of the general development in early implanted children. The preliminary results indicate variability in children's performance in various developmental domains and thus the need to monitor the development of each child individually and holistically.


Assuntos
Desenvolvimento Infantil , Implantes Cocleares , Surdez/cirurgia , Potenciais Evocados Auditivos , Criança , Pré-Escolar , Cognição , Surdez/congênito , Feminino , Humanos , Desenvolvimento da Linguagem , Estudos Longitudinais , Masculino
5.
Genes (Basel) ; 10(7)2019 07 12.
Artigo em Inglês | MEDLINE | ID: mdl-31336982

RESUMO

Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel's aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number of mutations has been reported. We report on eight further cases of LAMM syndrome including three novel mutations, c. 173T>C p.L58P; c. 284G>A p.(Arg95Gln) and c.325_327delinsA p.(Glu109Thrfs*18). Congenital deafness was the primary presenting feature in all affected individuals and consanguinity in all but two families. We compare the features in our patients to those previously reported in LAMM, and describe a milder, asymmetrical phenotype associated with FGF3 mutations.


Assuntos
Microtia Congênita/genética , Microtia Congênita/patologia , Orelha Interna/anormalidades , Fator 3 de Crescimento de Fibroblastos/genética , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Anormalidades Dentárias/genética , Anormalidades Dentárias/patologia , Adulto , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Surdez/congênito , Orelha Interna/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Fenótipo
6.
Acta Otolaryngol ; 139(6): 479-486, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31035849

RESUMO

BACKGROUND: Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, vision loss, and occasionally vestibular dysfunction. Klinefelter syndrome (KS) is an X chromosome polyploidy characterized by one or more additional X chromosomes in males. To date, there has been no report of USH combined with KS. OBJECTIVES: This study examined the causative genes in three Chinese probands with congenital hearing loss. MATERIAL AND METHODS: Targeted next-generation sequencing (NGS) was performed to identify mutations in three probands with hearing loss. Low-coverage whole-genome sequencing (WGS) analysis of aneuploidy was used to verify the chromosome aneuploidy. RESULTS: Four novel MYO7A mutations were identified in two USH1 probands who were initially diagnosed with nonsyndromic hearing loss until the onset of vision loss. Another case was initially diagnosed with nonsyndromic hearing loss and USH2 and KS were discovered incidentally after the genetic analysis. CONCLUSIONS: Our findings expand the mutation spectrum of MYO7A. This is also the first report of concomitant USH and KS. Genetic testing can help with clinical management, particularly if an unrecognized syndromic disorder is identified before the onset of additional symptoms. A clinical genetic evaluation is recommended as part of the diagnostic work-up in congenital hearing loss.


Assuntos
Surdez/genética , Predisposição Genética para Doença , Testes Genéticos/métodos , Síndrome de Klinefelter/genética , Síndromes de Usher/genética , Criança , China , Implantes Cocleares , Surdez/congênito , Feminino , Auxiliares de Audição , Humanos , Síndrome de Klinefelter/diagnóstico , Masculino , Multimorbidade , Mutação , Prognóstico , Amostragem , Síndromes de Usher/diagnóstico
7.
Am J Audiol ; 28(1): 62-68, 2019 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-30938557

RESUMO

Purpose The aim of the current study was to review all pediatric cases with congenital deafness who underwent bilateral implantation in our center. Specifically, auditory performance and speech intelligibility ratings were compared across children based on their mode of bilateral stimulation (simultaneous or sequential implantation). Method A retrospective chart review design was used in this study. A total of 46 congenitally deaf children were included. Children ranged in age between 2 and 8 years, with a mean of 3 years 7 months. Participants were divided into 2 groups: those who received their bilateral implant simultaneously and those who received them sequentially. Categories of Auditory Performance (CAP; Archbold, Lutman, & Marshall, 1995 ) scores and Speech Intelligibility Rating (SIR; M. C. Allen, Nikolopoulos, & O'Donoghue, 1998 ) scores were used to measure their performance. Results Children scored an average of 4.1 (±1.6) on the CAP Scale and 1.6 (±1) on the SIR Scale. Results showed that children who received their implants simultaneously scored relatively higher on the CAP Scale than those with sequential implants. However, there were no differences between the 2 groups in SIR scores. These 2 outcome measures were not correlated with age at implantation. Conclusion The current study demonstrated that simultaneous implantation could potentially improve audiologic outcome.


Assuntos
Implante Coclear/métodos , Surdez/reabilitação , Inteligibilidade da Fala , Percepção Auditiva , Criança , Pré-Escolar , Surdez/congênito , Surdez/fisiopatologia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Percepção da Fala , Inquéritos e Questionários , Resultado do Tratamento
8.
Am J Hum Genet ; 104(5): 914-924, 2019 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-30982611

RESUMO

Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the Australian family that defined Keipert syndrome (nasodigitoacoustic syndrome) identified a hemizygous truncating variant in the gene encoding glypican 4 (GPC4). This variant, located in the final exon of GPC4, results in premature termination of the protein 51 amino acid residues prior to the stop codon, and in concomitant loss of functionally important N-linked glycosylation (Asn514) and glycosylphosphatidylinositol (GPI) anchor (Ser529) sites. We subsequently identified seven affected males from five additional kindreds with novel and predicted pathogenic variants in GPC4. Segregation analysis and X-inactivation studies in carrier females provided supportive evidence that the GPC4 variants caused the condition. Furthermore, functional studies of recombinant protein suggested that the truncated proteins p.Gln506∗ and p.Glu496∗ were less stable than the wild type. Clinical features of Keipert syndrome included a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and digital abnormalities, whereas cognitive impairment and deafness were variable features. Studies of Gpc4 knockout mice showed evidence of the two primary features of Keipert syndrome: craniofacial abnormalities and digital abnormalities. Phylogenetic analysis demonstrated that GPC4 is most closely related to GPC6, which is associated with a bone dysplasia that has a phenotypic overlap with Keipert syndrome. Overall, we have shown that pathogenic variants in GPC4 cause a loss of function that results in Keipert syndrome, making GPC4 the third human glypican to be linked to a genetic syndrome.


Assuntos
Surdez/congênito , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Variação Genética , Glipicanas/genética , Deformidades Congênitas das Extremidades Inferiores/genética , Deformidades Congênitas das Extremidades Inferiores/patologia , Adulto , Criança , Pré-Escolar , Surdez/genética , Surdez/patologia , Feminino , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Adulto Jovem
9.
Int J Pediatr Otorhinolaryngol ; 121: 143-149, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30909120

RESUMO

OBJECTIVES: Although hearing loss is a well-known symptom of mitochondria-related disorders, it is not clear how often it is a congenital and cochlear impairment. The Newborn Hearing Screening Program (NHSP) enables to distinguish congenital cochlear deafness from an acquired hearing deficit. The initial aim of the study was to research the frequency of the congenital cochlear hearing loss among patients with various gene defects resulting in mitochondrial disorders. The research process brought on an additional gain: basing on our preliminary study group of 80 patients, in 12 patients altogether we identified two defected genes responsible for mitochondrial disorders, whose carriers did not pass the NHSP. Finally, these patients were diagnosed with the congenital cochlear deafness. MATERIAL AND METHODS: The results of the NHSP in the patients with mitochondrial disorders diagnosed in our tertiary reference center were analyzed. Only the cases with confirmed mutations were qualified for the study group. The NHSP database included 80 patients with mutations in 31 different genes: 25 nuclear-encoded and 6 mtDNA-encoded. We searched the literature for the presence of a congenital hearing impairment (CHI) in mitochondrial disorders caused by changes in 278 already known genes. RESULTS: For 68 patients from the study group the NHSP test indicated a proper cochlear function and thus suggested normal hearing. For 12 mitochondrial patients, the NHSP test indicated the requirement for the further audiological diagnosis, and finally CHI was confirmed in 8 of them. This latter subset included patients with pathogenic variants in RRM2B and SERAC1, known as "deafness-causing genes". Contrary to our initial expectations, the patients carrying mutations in other "deafness-causing genes": MPV17, POLG, COX10, as well as other mitochondria-related genes, all reported in literature, did not indicate any CHI following the NHSP test. CONCLUSION: Our study indicates that the cochlear CHI is a phenotypic feature of the RRM2B and SERAC1 related defects. The diagnosis of the CHI following the NHSP allows to early distinguish those defects from other mitochondria-related disorders in which the NHSP test result is correct. Wider studies are needed to assess the significance of this observation.


Assuntos
Hidrolases de Éster Carboxílico/genética , Proteínas de Ciclo Celular/genética , Surdez/genética , Perda Auditiva Neurossensorial/genética , Doenças Mitocondriais/genética , Ribonucleotídeo Redutases/genética , Adolescente , Criança , Pré-Escolar , DNA Mitocondrial , Surdez/congênito , Feminino , Perda Auditiva Neurossensorial/congênito , Testes Auditivos , Heterozigoto , Hospitais , Humanos , Lactente , Recém-Nascido , Masculino , Doenças Mitocondriais/complicações , Doenças Mitocondriais/diagnóstico , Mutação , Triagem Neonatal , Polônia
10.
Pediatr. aten. prim ; 21(81): e15-e24, ene.-mar. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-184538

RESUMO

El proceso por el que aprendemos y desarrollamos el lenguaje de forma natural es a través de la audición. La hipoacusia en la primera infancia limitará los estímulos auditivos y afectará significativamente al desarrollo del lenguaje y el habla, además de restringir el vínculo con el mundo que nos rodea. En los lactantes y niños pequeños, la detección y el tratamiento precoces de la hipoacusia puede mejorar los resultados lingüísticos y escolares. En ausencia de cribado, la edad media a la que se confirma el diagnóstico de hipoacusia congénita en niños sin factores de riesgo está en torno a los 2-3 años. Los programas de cribado auditivo neonatal universal se han extendido ampliamente, a pesar de la falta de pruebas sólidas que avalen su eficacia y coste-efectividad. En el presente trabajo, que se ha dividido en dos partes, los autores exponen el tema de forma exhaustiva, con sus controversias y claroscuros, para finalmente pronunciarse sobre recomendaciones que el grupo PrevInfad ha consensuado para la consulta de los pediatras en Atención Primaria


The process of learning and developing our language in a natural way is through hearing. Infancy hearing loss will limit auditory stimuli and will significantly harm language and speech development and will narrow the bonds with the world around. In infants and small children, early hearing loss detection and treatment can improve language and school performance. In the absence of screening, medium age of congenital hearing loss diagnosis in children without risk factors is around 2-3 years. Universal new-born hearing screening has spread widely despite the lack of solid evidence supporting its effectivity and cost- efficiency. In this paper, which has been divided in two parts, the author thoroughly describes the topic, with its controversy and nuances, and finally declares on the recommendations that PrevInfad group have agreed for primary care pediatricians


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Triagem Neonatal/métodos , Perda Auditiva/congênito , Surdez/congênito , Diagnóstico Precoce , Fatores de Risco , Testes Auditivos/métodos , Anormalidades Múltiplas/epidemiologia , Distúrbios da Fala/prevenção & controle
11.
Acta Otolaryngol ; 139(4): 361-366, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30762456

RESUMO

Background: The function of common cavity deformity demonstrated by temporal bone CT and MRI has been unknown. AIM/OBJECTIVE: To investigate the developmental changes of vestibular ocular reflex and acquisition of postural control in infants with common cavity deformity. MATERIAL AND METHODS: Eight infants who were congenitally deaf complicated by common cavity deformity were studied. The damped rotational chair test was carried out to evaluate vestibular ocular reflex. Acquisition of head control and independent walking in these infants was compared with that in normal infant's milestones of gross motor development. RESULTS: All of the eight infants with common cavity deformity did not show per-rotatory nystagmus in the damped rotational chair test around the first year of life. However, a normal number of beats and a longer duration of per-rotatory nystagmus for their age were recorded at around three or four years of age. CONCLUSIONS AND SIGNIFICANCE: In the eight infants with common cavity deformity, vestibular ocular reflex was not present around the first year of life, but appeared after three or four years probably because of some vestibular sensory cells. Head control and independent walking were delayed but eventually acquired by the central vestibular compensation.


Assuntos
Surdez/congênito , Orelha Interna/anormalidades , Reflexo Vestíbulo-Ocular , Criança , Pré-Escolar , Surdez/fisiopatologia , Feminino , Humanos , Masculino
12.
Int J Pediatr Otorhinolaryngol ; 119: 10-14, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30660013

RESUMO

INTRODUCTION: Non-genetic, congenital sensorineural hearing loss (cSNHL) is commonly caused by congenital CMV infection (cCMV). Hearing loss related to cCMV is variable in degree, often progressive, and can affect one or both ears. OBJECTIVES: We sought to examine the outcomes of DBS testing in California, and the hearing outcomes of cCMV-positive children. METHODS: This is a retrospective study of patients with SNHL of unknown etiology aged 6 months to 17 years old presenting to a tertiary care pediatric center and evaluated for cCMV by DBS testing. RESULTS: 114 children (228 ears) with SNHL of unknown origin were included. 6/114 (5.3%) tested positive for cCMV versus 108/114 (94.7%), who tested negative. None of the cCMV-positive children had symmetric bilateral hearing loss, compared with 56.5% (61/108) of cCMV-negative children (p < 0.05). cCMV-positive children were more likely to have profound SNHL in the worse-hearing ear (5/6 (83%) vs 16/108 (14.9%) of cCMV-negative children, p < 0.001). 86% (5/6) exhibited progressive hearing loss, including progression or new-onset hearing loss in the previously better hearing ear. 3 of the 6 children with cCMV underwent CI. CONCLUSION: A small proportion of patients presenting with SNHL tested positive on DBS. Of cCMV-positive children, most presented with profound hearing loss in the worse-hearing ear, and 50% of cCMV-positive children developed progressive hearing loss in the initially better-hearing ear. Prognostic information afforded by etiologic confirmation of cCMV infection informed decision-making concerning cochlear implantation in these cases.


Assuntos
Infecções por Citomegalovirus/diagnóstico , Surdez/virologia , Teste em Amostras de Sangue Seco , Perda Auditiva Neurossensorial/virologia , Adolescente , California , Criança , Pré-Escolar , Implantes Cocleares , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/congênito , Surdez/congênito , Surdez/cirurgia , Progressão da Doença , Feminino , Audição , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/cirurgia , Humanos , Lactente , Masculino , Estudos Retrospectivos
13.
Ear Hear ; 40(4): 870-877, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30299343

RESUMO

OBJECTIVES: The study aimed to determine the effect of interimplant interval and onset of profound deafness on sound localization in children with bilateral cochlear implants, controlling for cochlear implant manufacturer, age, and time since second implant. DESIGN: The authors conducted a retrospective, observational study using routinely collected clinical data. Participants were 127 bilaterally implanted children aged 4 years or older, tested at least 12 mo post- second implant. Children used implants made by one of three manufacturers. Sixty-five children were simultaneously implanted, of whom 43% were congenitally, bilaterally profoundly deaf at 2 and 4 kHz and 57% had acquired or progressive hearing loss. Sixty-two were implanted sequentially (median interimplant interval = 58 mo, range 3-143 mo) of whom 77% had congenital and 23% acquired or progressive bilateral profound deafness at 2 and 4 kHz. Children participated in a sound-source localization test with stimuli presented in a random order from five loudspeakers at -60, -30, 0, +30, and +60 degrees azimuth. Stimuli were prerecorded female voices at randomly roved levels from 65 to 75 dB(A). Root mean square (RMS) errors were calculated. Localization data were analyzed via multivariable linear regression models, one applied to the whole group and the other to just the simultaneously implanted children. RESULTS: Mean RMS error was 25.4 degrees (SD = 12.5 degrees) with results ranging from perfect accuracy to chance level (0-62.7 degrees RMS error). Compared with simultaneous implantation, an interimplant interval was associated with worse localization by 1.7 degrees RMS error per year (p < 0.001). Compared with congenital deafness, each year with hearing thresholds better than 90 dB HL at 2 and 4 kHz bilaterally before implantation led to more accurate localization by 1.3 degrees RMS error (p < 0.005). Every year post-second implant led to better accuracy by 1.6 degrees RMS error (p < 0.05). Med-El was associated with more accurate localization than Cochlear by 5.8 degrees RMS error (p < 0.01) and with more accurate localization than Advanced Bionics by 9.2 degrees RMS error (p < 0.05). CONCLUSIONS: Interimplant interval and congenital profound hearing loss both led to worse accuracy in sound-source localization for children using bilateral cochlear implants. Interimplant delay should therefore be minimized for children with bilateral profound hearing loss. Children presenting with acquired or progressive hearing loss can be expected to localize better via bilateral cochlear implants than their congenitally deaf peers.


Assuntos
Implante Coclear/métodos , Surdez/reabilitação , Perda Auditiva Bilateral/reabilitação , Localização de Som , Adolescente , Criança , Pré-Escolar , Surdez/congênito , Feminino , Perda Auditiva Bilateral/congênito , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
14.
Int J Pediatr Otorhinolaryngol ; 116: 118-124, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30554681

RESUMO

OBJECTIVE: The purpose of this study was to investigate the development of speech skills in young children with Mondini dysplasia and age-matched deaf children with radiologically normal inner ears over a period of 5 years after cochlear implantation (CI). METHODS: In total, 700 congenitally severely to profoundly deaf children (281 girls and 419 boys) participated in this study. All of the participants had undergone unilateral CI surgery before 36 months of age. The participants were categorized into two groups based on the absence or presence of Mondini dysplasia in the implanted ear, as assessed via high-resolution, thin-slice computerized tomography or magnetic resonance imaging: group A comprised 592 children with radiologically normal inner ears and group B comprised 108 children with Mondini dysplasia. The Meaningful Use of Speech Scale (MUSS) and Speech Intelligibility Rating (SIR) were used to evaluate the speech performance of all young children at various time points: pre-surgery and at 1, 3, 6, 12, 24, 36, 48, and 60 months after switch-on programming. RESULTS: The mean scores of SIR and MUSS in children from both group A and group B showed significant improvements over time. No significant differences were found in the mean scores of SIR between the two groups at any time interval during the 5-year follow-up. The mean score of MUSS was significantly different between group A and group B at 12, 24, and 36 months after implantation, whereas no obvious differences were noted pre-surgery, and at 1, 3, 6, 48, and 60 months post-operation. CONCLUSIONS: Young children with Mondini dysplasia develop their speech skills at a fast rate and achieve similar speech acquisition compared to age-matched children with radiologically normal inner ears 5 years post-operation. Therefore, CI is an effective intervention method for young children with Mondini dysplasia.


Assuntos
Implante Coclear/métodos , Surdez/cirurgia , Orelha Interna/anormalidades , Doenças do Labirinto/cirurgia , Inteligibilidade da Fala/fisiologia , Criança , Pré-Escolar , Implantes Cocleares , Surdez/congênito , Surdez/fisiopatologia , Feminino , Humanos , Lactente , Doenças do Labirinto/complicações , Masculino , Período Pós-Operatório , Percepção da Fala , Medida da Produção da Fala/métodos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
15.
Audiol Neurootol ; 23(3): 181-186, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30304724

RESUMO

AIM: To investigate and compare residual hearing preservation between patients based on the presence of intraoperative gusher. METHODOLOGY: We retrospectively compared 2 cohorts of cochlear implant recipients significantly distinguished by whether or not they experienced gusher intraoperatively. Patients underwent cochlear implantation using 24-mm lateral wall electrode arrays as well pharmacologic steroid protection. All patients were assessed by a hearing implant MDT. Hearing preservation rates and speech perception outcomes were assessed at 1, 6, 12, 24, 36, 48, and 60 months. RESULTS: The patients with no gusher demonstrated complete hearing preservation. The patients with gusher demonstrated significant postoperative reduction of hearing thresholds, which declined at a significantly higher pace during follow-up. All patients demonstrated significantly better speech performance after cochlear implantation. CONCLUSION: The present study suggests that intraoperative gusher is associated with a significant drop in residual hearing, both immediately and over time, which may be related to the large change in intracochlear pressure intraoperatively.


Assuntos
Líquido Cefalorraquidiano , Cóclea/anormalidades , Implante Coclear , Implantes Cocleares , Surdez/reabilitação , Perilinfa , Pressão , Adulto , Idoso , Surdez/congênito , Feminino , Audição , Testes Auditivos , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Prognóstico , Estudos Retrospectivos , Fala , Percepção da Fala
16.
Artigo em Chinês | MEDLINE | ID: mdl-30293254

RESUMO

Objective: To screen for hotspot gene mutations associated with genetic deafness in Chinese pregnant women, and to perform risk assessment and prenatal diagnosis in high-risk families. Methods: Between November 2012 and October 2017, 26 117 pregnant women were screened by molecular hybridization microarray for 9 hot-spot mutations in 4 hereditary deafness related genes (GJB2 c. 35 del G, c. 176_191 del 16 bp, c. 235 del G, c. 299_300 del AT, GJB3 c. 538 C>T, SLC26A4 c. 2168 A>G, IVS 7-2 A>G, mitochondrial DNA 12S rRNA m. 1494 C>T, m. 1555 A>G). Genotype analysis was carried out in husbands of women carrying mutations, and prenatal diagnosis was carried out in the fetuses with high risk of deafness. Results: Among all women tested, 1 208(4.63%) were carriers of genetic deafness mutations, 7 with hearing impairment were affected by homozygous or compound heterozygous mutations, 51 were mitochondrial gene mutation carriers, 103 were carriers of GJB3 c. 538 C>T heterozygous mutation, 1 026 were carriers of GJB2 or SLC26A4 heterozygous mutations, and 21 carried heterozygous mutations in two genes simultaneously. In 394 families, the husbands accepted gene sequence testing, and 27 in which were determined as carriers of mutations in identical genes as their wives. Among which, 18 families received prenatal diagnosis, and 5 fetuses were diagnosed as hereditary deafness. In 9 families who did not receive prenatal diagnosis, 1 neonate was diagnosed as compound heterozygote after delivery. Conclusion: In order to prevent birth defects with congenital hearing problems, it is effective to provide screening for hotspot mutations in pregnant women and to perform prenatal diagnosis on high risk pregnancies.


Assuntos
Surdez/genética , Perda Auditiva/genética , Mutação , Gravidez de Alto Risco/genética , Diagnóstico Pré-Natal , Análise Mutacional de DNA , Surdez/congênito , Feminino , Testes Genéticos , Heterozigoto , Homozigoto , Humanos , Recém-Nascido , Masculino , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Gravidez , Cônjuges
17.
J Speech Lang Hear Res ; 61(10): 2561-2577, 2018 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-30242344

RESUMO

Purpose: This study assessed phonological, lexical, and morphosyntactic abilities at 6th grade for a group of children previously tested at 2nd grade to address 4 questions: (a) Do children with cochlear implants (CIs) demonstrate deficits at 6th grade? (b) Are those deficits greater, the same, or lesser in magnitude than those observed at 2nd grade? (c) How do the measured skills relate to each other? and (d) How do treatment variables affect outcome measures? Participants: Sixty-two 6th graders (29 with normal hearing, 33 with CIs) participated, all of whom had their language assessed at 2nd grade. Method: Data are reported for 12 measures obtained at 6th grade, assessing phonological, lexical, and morphosyntactic abilities. Between-groups analyses were conducted on 6th-grade measures and the magnitude of observed effects compared with those observed at 2nd grade. Correlational analyses were performed among the measures at 6th grade. Cross-lagged analyses were performed on specific 2nd- and 6th-grade measures of phonological awareness, vocabulary, and literacy to assess factors promoting phonological and lexical development. Treatment effects of age of 1st CI, preimplant thresholds, and bimodal experience were evaluated. Results: Deficits remained fairly consistent in type and magnitude across elementary school. The largest deficits were found for phonological skills and the least for morphosyntactic skills, with lexical skills intermediate. Phonological and morphosyntactic skills were largely independent of each other; lexical skills were moderately related to phonological skills but not morphosyntactic skills. Literacy acquisition strongly promoted both phonological and lexical development. Of the treatment variables, only bimodal experience affected outcomes and did so positively. Conclusions: Congenital hearing loss puts children at continued risk of language deficits, especially for phonologically based skills. Two interventions that appear to ameliorate that risk are providing a period of bimodal stimulation and strong literacy instruction.


Assuntos
Implantes Cocleares , Surdez/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Criança , Surdez/congênito , Feminino , Humanos , Desenvolvimento da Linguagem , Testes de Linguagem , Masculino , Fonética , Vocabulário
18.
Cochlear Implants Int ; 19(6): 350-354, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30227792

RESUMO

Congenital long QT syndrome (cLQTS) is an inherited cardiac ion channelopathy characterized by a long corrected-QT interval on the ECG, associated with a risk of syncope and sudden death as a result of arrhythmias. The archetypal arrhythmia associated with cLQTS is torsade de pointes which may degenerate into ventricular fibrillation. Children with Jervell and Lange-Neilsen syndrome have the combination of cLQTS and congenital sensorineural deafness and may present for cochlear implantation (CI). Sympathetic stimulation and administration of QT-prolonging medications may trigger arrhythmias in children with cLQTS and thus the perioperative period is a time of increased risk of adverse events, with deaths reported in the CI literature. Our Paediatric Cochlear Implant Programme had previously elected to discontinue offering CI to children with cLQTS following a perioperative death. However, subsequent demand for this service by parents led us to develop and introduce a multidisciplinary, evidence-based pathway of care. This pathway modifies the perioperative management of these children to reduce the associated risk. We present the cases of four children with cLQTS who underwent CI in our specialist children's hospital.


Assuntos
Implante Coclear/efeitos adversos , Surdez/cirurgia , Síndrome de Jervell-Lange Nielsen/complicações , Síndrome do QT Longo/complicações , Criança , Surdez/congênito , Feminino , Humanos , Síndrome do QT Longo/congênito , Masculino
19.
Vestn Otorinolaringol ; 83(4): 31-36, 2018.
Artigo em Russo | MEDLINE | ID: mdl-30113577

RESUMO

The most common cause of congenital hereditary hearing loss was discovered 20 years ago in 1997 when GJB2 gene was revealed in the first locus of recessive hearing loss DFNB1. It encodes protein connexin 26, a structural component of the intercellular channels. Recessive mutations in this gene cause the congenital bilateral sensorineural hearing loss. For many years the aim of our work was to study the prevalence and clinical manifestations of hereditary hearing loss. Our research can be divided into three stages. In the beginning, we investigated the prevalence of GJB2 mutations in a healthy population and in the people suffering from hearing impairment. Further research was conducted in the field of clinical manifestations and evidence of the congenital character of GJB2-related hearing loss. Currently, we are working on the prevalence of mild and moderate hereditary hearing loss and the probability of its progression. Achievements in molecular genetics make it possible to establish the hereditary character of congenital hearing loss and to avoid repeated family cases. Primary prevention of hereditary hearing loss becomes real by raising the awareness of GJB2 mutations carriers.


Assuntos
Conexinas/genética , Surdez , Adolescente , Criança , Pré-Escolar , Surdez/congênito , Surdez/diagnóstico , Surdez/epidemiologia , Surdez/genética , Feminino , Humanos , Lactente , Masculino , Mutação , Federação Russa/epidemiologia
20.
Anal Chem ; 90(15): 8919-8926, 2018 08 07.
Artigo em Inglês | MEDLINE | ID: mdl-29987923

RESUMO

Hereditary hearing loss is a common clinical neurosensory disorder in humans and has a high demand for genetic screening. Current screening techniques using peripheral blood or dried blood spots (DBSs) are invasive. Therefore, this study aims to develop a noninvasive and accurate detection method for eight hotspot deafness-associated mutations based on buccal swab and droplet digital PCR (ddPCR). First, this method was evaluated for analytic performance including specificity, detection limit, dynamic range using plasmid DNA. The specificity was 100% and the detection limit was 5 copies. The dynamic range of this ddPCR-based method was from 10 to 105 copies/µL. Next, the method was found to accurately quantify mitochondrial gene heteroplasmy rate as low as 1% for both m.1494C > T and m.1555A > G sites. Then, we demonstrated that buccal swab was a reliable sample. DNA can be extracted and accurately quantified after a buccal swab had been stored for 90 days at either room temperature or -20 °C. Finally, clinical samples (23 DBSs and 42 buccal swabs) were tested to further evaluate the accuracy and clinical applicability of this method. All clinical samples were accurately quantified and genotyped. This noninvasive and accurate method is highly promising as a genetic screening method for deafness-associated mutations due to its high sensitivity and accuracy.


Assuntos
Análise Mutacional de DNA/métodos , Surdez/genética , Adulto , Criança , DNA/genética , Surdez/congênito , Surdez/diagnóstico , Feminino , Testes Genéticos/métodos , Genótipo , Humanos , Recém-Nascido , Masculino , Mutação , Triagem Neonatal/métodos , Reação em Cadeia da Polimerase/métodos , Manejo de Espécimes/métodos , Adulto Jovem
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