RESUMO
Objective:To investigate the audiological characteristics and possible causes of unilateral hearing loss in infants and young children. Methods:105 infants from Beijing Maternal and Child Health Care Institution who failed the newborn hearing screening and were referred to the Children's Hearing Diagnosis Center of PLA General Hospital for hearing diagnosis. They were diagnosed with unilateral hearing loss and underwent clinical data collection. A full set of audiological examinations included ABR, 40 Hz auditory event related potential, ASSR, DPOAE, tympanometry. Results:â In initial diagnosis, 45 casesï¼42.86%ï¼ had mild hearing loss, 19 casesï¼18.10%ï¼ had moderate hearing loss, 14 casesï¼13.33%ï¼ had severe hearing loss, and 27 casesï¼25.71%ï¼ had severe hearing loss; Among them, 65 casesï¼61.90%ï¼ were conductive hearing loss or mixed hearing loss, and 40 casesï¼38.10%ï¼ were sensorineural hearing loss. â¡83 of 105 cases had follow-up visits: 24 cases were normal, 15 cases with mild hearing loss, 4 cases with moderate hearing loss, 12 cases with severe hearing loss, and 26 cases with extremely severe hearing loss, 2 cases of hearing loss in both ears. â¢From the initial diagnosis to the follow-up diagnosis, the change of mild hearing loss was the largest, followed by moderate hearing loss, severe and extremely severe hearing loss basically did not change; the number of mild and severe conductive hearing loss which recovered to normal hearing was most, the number of sensorineural hearing loss changed little. Conclusion:The infants who failed the newborn hearing screening and were diagnosed with unilateral hearing loss were mainly mild to moderate conductive hearing loss and severe to extremely severe sensorineural hearing loss. The hearing of children with hearing loss gradually improved, and severe and extremely severe sensorineural hearing loss remained unchanged.
Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva Unilateral , Perda Auditiva , Recém-Nascido , Criança , Lactente , Humanos , Pré-Escolar , Perda Auditiva Unilateral/diagnóstico , Perda Auditiva Condutiva/diagnóstico , Triagem Neonatal , Perda Auditiva/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Testes de Impedância Acústica , Potenciais Evocados Auditivos do Tronco EncefálicoRESUMO
Objective:To explore the value and influencing factors of behavioral audiometry in subjective hearing assessment of children. Methods:The results of behavioral audiometryï¼visual reinforcement audiometry or play audiometryï¼ of 1944 childrenï¼3888 earsï¼ in the outpatient department from January 2012 to December 2015 were retrospectively analyzed. The subjective performanceï¼" good ", "moderate", "poor", " unfinished "ï¼ was compared according to age and hearing level. SPSS 27.0 software was used for statistical analysis. Results:The subjective performance of children was "good" in 2791 earsï¼71.8%ï¼, "moderate" in 411 earsï¼10.6%ï¼, "poor" in 309 earsï¼7.9%ï¼ and " unfinished " in 377 earsï¼9.7%ï¼. In visual reinforcement audiometry, the proportion of children who subjectively performed as "good" gradually increased with age, reaching the peak at 2 years old, and decreased with age after 2 years old. In play audiometry, the proportion of children who subjectively performed as "good" gradually increased with age, peaking at 4-5 years of age. The children who did not finish the test were mainly 1-3 years old. The reasons included uncooperation for 148 ears, crying for 95 ears, refusing to wear headphones for 57 ears, fatigue for 42 ears, lack of interest for 20 ears, not understanding for 14 ears, and distraction for 1 ear. Conclusion:Behavioral audiometry was helpful to assess children's subjective hearing, and children's subjective performance was good. In clinical work, more novel and attractive test materials and methods should be adopted or developed according to the physical and mental characteristics of young children.
Assuntos
Audiometria , Testes Auditivos , Criança , Humanos , Pré-Escolar , Lactente , Estudos Retrospectivos , Limiar Auditivo , Audição , Audiometria de Tons Puros/métodosRESUMO
Objective:To analyse the audiological characteristics of patients of children with auditory neuropathyï¼ANï¼ for gaining a better understanding of the audiological characteristics prognosis of patients with AN. Methods:58 patientsï¼108 earsï¼ of children with AN were enrolled, all of whom had received further consultation within 10 years after the first consultation. Behavioral audiometry test, tympanogram test, distortion product otoacoustic emissionï¼DPOAEï¼, auditory brainstem responseï¼ABRï¼, cochlear microphonicsï¼CMï¼, auditory steady-state responseï¼ASSRï¼ were performed on these patients. Results:â There were no significant changes in behavioral audiometry threshold between first and further consultationï¼P>0.05ï¼ï¼â¡Tympanograms were mostly of type A or Asï¼ â¢The patients had worse DPOAE results in the further consultation, while the elicitation rate of other frequencies were higher except for the lower elicitation rate of 750 Hz and 1000 Hzï¼â£There were 7 ears that had present ABR and CM in the first consultation, while three ears had present ABR and CM in the further consultationï¼â¤Except for 500 Hz, other frequency thresholds of ASSR in the further consultation were statistically significant compared with those in the first consultationï¼P<0.01ï¼ï¼â¥The threshold of behavioral audiometry at 4000 Hz was higher than that of ASSR, and there was no obvious correlation between the other frequenciesï¼P>0.05ï¼. Conclusion:There is a tendency of hearing deterioration in patients of children with AN. Patients with no DPOAE elicitation and no ABR elicitation or serious abnormalities need CM test to avoid misdiagnosis. The hearing status and speech communication ability of patients should be continuously monitored. Parents should pay attention to the changes in the behavioral ability of the children in daily life and make regular subsequent visits.
Assuntos
Perda Auditiva Central , Humanos , Criança , Seguimentos , Limiar Auditivo , Perda Auditiva Central/diagnóstico , Audição , Potenciais Evocados Auditivos do Tronco Encefálico , Audiometria de Tons PurosRESUMO
Objective:To explore the genetic cause of a Chinese autosomal dominant nonsyndromic hearing loss family and investigate the clinical features and molecular genetic characteristics of this family. Method:Detailed medical history and systematic audiology tests were carried out in the family members, and they were subjected to comprehensive genetic analyses using massively parallel sequencing, which targeted 139 known deafness genes and 6 mitochondrial DNA mutations associated with hearing loss. Result:This family's hearing loss was consistent with autosomal dominant nonsyndromic hearing loss. The affected family members appeared to have developed a high-frequency hearing loss with the onset of twenties. We identified a heterozygous missense mutation, c.418A>G/p. Thr140Ala in the CEACAM16 gene, segregating with the deafness in this family. Conclusion:In this study, we identified a new mutation of CEACAM16 gene, which was the second mutation identified in Chinese hearing loss population. It has enriched the mutation spectrum of this gene.
Assuntos
Artrogripose , Surdez , Moléculas de Adesão Celular , Surdez/genética , Humanos , Mutação , LinhagemRESUMO
BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. METHODS: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was performed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial HDR syndrome cases analyzed were provided. RESULTS: In Chinese family 7121, a heterozygous nonsense mutation c.826C>T (p.R276*) was identified in GATA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases (30%) and two thirds of them were found to carry premature stop mutations. CONCLUSIONS: This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.
Assuntos
Fator de Transcrição GATA3/genética , Perda Auditiva Neurossensorial/genética , Hipoparatireoidismo/genética , Nefrose/genética , Criança , Feminino , Genótipo , Perda Auditiva/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Mutação/genética , LinhagemRESUMO
A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a customized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagnosis (PGD), noninvasive prenatal testing (NIPT), and noninvasive prenatal diagnosis (NIPD) into the strategy. Auditory and genetic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a singleton pregnancy. At the 13th week of gestation, genomic DNA (gDNA) from the trio family and cell-free DNA (cfDNA) from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by invasive procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing impairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders.
Assuntos
Conexinas/genética , Perda Auditiva/diagnóstico , Diagnóstico Pré-Implantação/métodos , Aneuploidia , Biópsia , Sistema Livre de Células , Conexina 26 , Análise Mutacional de DNA , Saúde da Família , Feminino , Fertilização in vitro , Perda Auditiva/genética , Testes Auditivos , Humanos , Masculino , Mutação , Linhagem , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal/métodosRESUMO
OBJECTIVE: To investigate the clinical and genetic characteristics of three Chinese Meniere's disease (MD) families and decipher the mechanism of MD further. METHODS: Personal and family medical evidence of hearing loss, vestibular symptoms, and other clinical abnormalities of the participants were identified, clinical and genetic features were analyzed. Targeted 307 genes capture and high-throughput sequencing were performed on the two ascertained members of family 1007184. RESULTS: Eight patients from these three families showed post-lingual sensorineural hearing loss, six women and two men were involved. Age of onset in these affected members concentrated in the middle age, with the average age of 39.3 years old. Among them, patients from 1407278 were accompanied by migraine. All of the three probands presented as recurrent vertigo firstly, and then fluctuated hearing loss showed up, accompanying by tinnitus and ear fullness feeling. The hearing loss manifested as late-onset, low frequency-involved pattern, with subsequent gradual progression from moderate to severe level. Some of the patients progressed to severe level involving all frequencies at higher ages. In addition, most of the cases showed revitalization. Four cases received vestibular function tests, three of which had varying dysfunction of vestibular function, while the other one had normal vestibular function. Patients who had abnormal vestibular function showed much more severe hearing impairment. The three-generation family 1007193 had an autosomal recessive genetic characteristics, family 1007184 showed autosomal dominant inheritance of characteristics, family 1407278 were either autosomal dominant or X-linked dominant pattern. Through target genes capture high-throughput sequencing technology, we identified two candidate variants in the two members of family 1007184, named c. 2057G>A in EGFLAM and c. 1961C>T in ITGA8. CONCLUSION: Meniere's disease has some genetic and familial aggregation in Chinese population, but its complex genetic pathogenic mechanisms need further study.
Assuntos
Perda Auditiva Neurossensorial/fisiopatologia , Doença de Meniere/fisiopatologia , Adulto , Surdez , Saúde da Família , Feminino , Perda Auditiva Neurossensorial/etiologia , Humanos , Padrões de Herança , Masculino , Doença de Meniere/complicações , Doença de Meniere/genética , Pessoa de Meia-Idade , Transtornos de Enxaqueca/etiologia , Zumbido/etiologia , Testes de Função Vestibular , Vestíbulo do Labirinto/fisiopatologiaRESUMO
OBJECTIVE: To investigate the characteristics of tinnitus in patients with auditory neuropathy spec- trum disorder (ANSD). METHOD: This study recruited 14 ANSD patients with tinnitus. All the ANSD patients un- derwent detailed history taking, audiological examinations and assessments of tinnitus. This study analyzed the correlation of tinnitus status and hearing loss, and discussed the effects of sex, age, and the course of disease on tinnitus in ANSD patients. RESULT: (1) In the ANSD patients, tinnitus often occurred in 3 years after the onset of hearing loss; (2) Tinnitus was highly prevalent in ANSD patients, and the severity of tinnitus was mostly from mild to moderate; (3) There was no obvious correlation between the subjective grading of tinnitus and hearing loss de- gree, and the impact of curve patterns of hearing loss on the level of tinnitus need much more evidence-based proof; (4) Along with the course extension, the impact of tinnitus on the quality of life was much more obvious; (5) Some risk factors such as noise exposure could be the reasons of aggravating the degree of tinnitus. CONCLUSION: Tinnitus in ANSD patients has its unique clinical features. The study of Tinnitus in ANSD patients can provide clinical basis for further research in ANSD.