Etiologic diagnosis of sensorineural hearing loss in adults

2005 ◽  
Vol 132 (6) ◽  
pp. 890-895 ◽  
Author(s):  
Simon I. Angeli ◽  
Denise Yan ◽  
Fred Telischi ◽  
Thomas J. Balkany ◽  
Xiao M. Ouyang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Medical Center ◽  
Academic Medical Center ◽  
Sensorineural Hearing ◽  
Gjb2 Gene ◽  
High Resolution Computed Tomography ◽  
Vestibular Aqueduct ◽  
Etiologic Diagnosis

OBJECTIVE: To determine the etiology of adult-onset sensorineural hearing loss. STUDY DESIGN AND SETTING: This is a prospective cohort study of 60 adult subjects with bilateral sensorineural hearing loss of no obvious etiology by medical history and physical examination. These patients were evaluated at an academic medical center and underwent evaluation by high-resolution computed tomography of the temporal bone, autoimmune panel, and DNA testing for mutations of both the GJB2 gene and the mitochondrial DNA (1555A>G and 7445A>G). RESULTS: An etiologic diagnosis was achieved in 6 patients: cochlear otosclerosis, 1 case; dilated vestibular aqueduct, 1 case; a mitochondrial DNA 7445A>G mutation, 3 cases; and a mitochondrial DNA 1555A>G mutation, 1 case. CONCLUSION: This result underscores the importance of a search for the etiology of a hearing deficit in adult patients. There are specific interventions now available for the management of hearing-impaired patients with cochlear otosclerosis and mitochondrial DNA mutations.

scholarly journals Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations

2012 ◽  
Vol 147 (5) ◽  
pp. 932-936 ◽  
Author(s):  
Peter J. King ◽  
Xiaomei Ouyang ◽  
Lilin Du ◽  
Denise Yan ◽  
Simon I. Angeli ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Family History ◽  
Sensorineural Hearing Loss ◽  
Pediatric Patients ◽  
Sensorineural Hearing ◽  
Common Mutation ◽  
Mtdna Mutations ◽  
Pediatric Populations ◽  
Etiologic Diagnosis

Objectives Determine the diagnostic yield of a shared genetic testing algorithm in adult and pediatric populations with sensorineural hearing loss (SNHL) and recommend effective testing strategies to evaluate for genetic causes of deafness in patients presenting with idiopathic sensorineural hearing loss. Study Design Hospital-based cohort study. Setting University of Miami outpatient otology clinics between 2001 and 2010. Subjects Two hundred twenty-one adult and 163 pediatric patients with nonsyndromic sensorineural hearing loss. Methods Peripheral blood samples were screened for mutations in GJB2 and GJB6 and mitochondrial DNA mutations 1555A>G, 7444G>A, and 3243A>G. Audiometric data and family history were also collected. Results GJB2/ GJB6-related deafness was diagnosed in 23 of 163 pediatric patients (14%) compared with only 3 of 221 adults (1%). All adults had a family history of hearing loss, and 2 patients noted deafness onset at birth. Nineteen GJB2 mutations were identified with 35delG the most common mutation. The 35delG homozygous state was the most common pathogenic genotype (54%). Mitochondrial DNA (mtDNA) mutations were found in 6 adult probands (3%). No mtDNA mutations were found in pediatric patients. Conclusion Testing for common GJB2/ GJB6 mutations in pediatric patients has considerable value in establishing an etiologic diagnosis for SNHL. Similar testing in adults is of very low yield except perhaps in cases of early-onset SNHL or strong family history. Mitochondrial DNA testing should be considered in adults with idiopathic SNHL.

Audiometric Patterns and Prognosis in Sudden Sensorineural Hearing Loss in Southern Taiwan

2005 ◽  
Vol 133 (6) ◽  
pp. 916-922 ◽  
Author(s):  
Ning-Chia Chang ◽  
Kuen-Yao Ho ◽  
Wen-Rei Kuo
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Pattern Classification ◽  
Medical Center ◽  
Academic Medical Center ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Factors Affecting ◽  
Academic Medical ◽  
Low Tone

OBJECTIVES: To investigate factors affecting the prognosis of sudden sensorineural hearing loss (SSNHL). STUDY DESIGN AND SETTING: This is a retrospective study of patients with SSNHL hospitalized at an academic medical center. All patients in this study were treated with prednisolone and dextran. We compared a new 7-pattern classification for audiometric pattern and prognosis analysis with Sheehy classification. RESULTS: We analyzed 148 affected ears in 146 patients. Occurrence of SSNHL was associated with changes in season. The best prognosis was with the midtone pattern of the 7-pattern classification and with the low-tone pattern of Sheehy classification. The older patients, those with vertigo, or those treated after 6 days had a poor prognosis. There was no significant association between ESR level and prognosis. CONCLUSIONS: SSNHL patients with midtone loss have the best prognosis. This study of the audiometric patterns and prognostic factors of SSNHL allow us to better predict its outcome. EBM RATING: B-2

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss

2009 ◽  
Vol 390 (3) ◽  
pp. 755-757 ◽  
Author(s):  
Haris Kokotas ◽  
Maria Grigoriadou ◽  
George S. Korres ◽  
Elisabeth Ferekidou ◽  
Eleftheria Papadopoulou ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

1998 ◽  
Vol 124 (5) ◽  
pp. 501 ◽  
Author(s):  
Cor W. R. J. Cremers ◽  
Cuny Bolder ◽  
Ronald J. C. Admiraal ◽  
Lorraine A. Everett ◽  
Frank B. M. Joosten ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Pendred Syndrome ◽  
Vestibular Aqueduct

scholarly journals Fluctuating Sensorineural Hearing Loss

2019 ◽  
Vol 24 (3) ◽  
pp. 109-116 ◽  
Author(s):  
Hui Liu ◽  
Kunpeng Zhou ◽  
Xuemei Zhang ◽  
Kevin A. Peng
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Current Treatment ◽  
Sensorineural Hearing ◽  
Initial Presentation ◽  
Vestibular Aqueduct ◽  
Long Term Follow Up ◽  
Inner Ear Disease ◽  
Fluctuating Hearing Loss

Background: Several otologic conditions can present with fluctuating sensorineural hearing loss, including Ménière’s disease, autoimmune inner ear disease, and enlarged vestibular aqueduct. Although these 3 etiologies vary greatly, distinguishing between these conditions at initial presentation can be challenging. Furthermore, initial treatment of these conditions is often similar. In this review, we discuss historical and current perspectives on diagnosis and treatment of these conditions. Summary: A literature search was performed regarding fluctuating hearing loss, and current treatment of these etiologies of fluctuating hearing loss was summarized. Immediate measures at the onset of acute hearing loss include corticosteroid therapy, while preventative and chronic therapies, which can limit disease severity and frequency, vary based on the specific condition treated. Key Messages: Fluctuating hearing loss can represent a range of pathologies, but the precise etiology may not be clear at initial presentation. Timely treatment and long-term follow-up, along with appropriate diagnostics, are necessary to optimize long-term hearing.

Three Familial Cases of Hearing Loss Associated with Enlargement of the Vestibular Aqueduct

1997 ◽  
Vol 106 (12) ◽  
pp. 1063-1069 ◽  
Author(s):  
Satoko Abe ◽  
Shin-ichi Usami ◽  
Hideichi Shinkawa
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
High Frequency ◽  
Present Report ◽  
Sensorineural Hearing ◽  
Familial Cases ◽  
Vestibular Aqueduct ◽  
Different Types ◽  
The Common

The present report describes three familial cases of recessive hearing loss associated with enlargement of the vestibular aqueduct (EVA). Six siblings from three families showed EVA. The common characteristic of these patients was the presence of congenital, high-frequency, fluctuating sensorineural hearing loss. These cases suggest that EVA may be a useful discriminator between different types of recessive hearing loss.

scholarly journals Should You Follow the Better-Hearing Ear for Congenital Cytomegalovirus Infection and Isolated Sensorineural Hearing Loss?

2019 ◽  
Vol 162 (1) ◽  
pp. 114-120 ◽  
Author(s):  
Vanessa Torrecillas ◽  
Chelsea M. Allen ◽  
Tom Greene ◽  
Albert Park ◽  
Winnie Chung ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Early Onset ◽  
Medical Center ◽  
Antiviral Treatment ◽  
Sensorineural Hearing ◽  
Cmv Infection ◽  
Congenital Cytomegalovirus ◽  
Delayed Onset ◽  
Hearing Thresholds

Objective To describe the progression of sensorineural hearing loss (SNHL) in the better- and poorer-hearing ears in children with asymptomatic congenital cytomegalovirus (CMV) infection with isolated SNHL. Study Design Longitudinal prospective cohort study. Setting Tertiary medical center. Subjects and Methods We analyzed hearing thresholds of the better- and poorer-hearing ears of 16 CMV-infected patients with isolated congenital/early-onset or delayed-onset SNHL identified through hospital-based CMV screening of >30,000 newborns from 1982 to 1992. Results By 12 months of age, 4 of 7 patients with congenital/early-onset SNHL developed worsening thresholds in the poorer-hearing ear, and 1 had an improvement in the better-hearing ear. By 18 years of age, all 7 patients had worsening thresholds in the poorer-hearing ear and 3 patients had worsening thresholds in the better-hearing ear. Hearing loss first worsened at a mean age of 2 and 6 years in the poorer- and better-hearing ears, respectively. Nine patients were diagnosed with delayed-onset SNHL (mean age of 9 years vs 12 years for the poorer- and better-hearing ears), 6 of whom had worsening thresholds in the poorer-hearing ear and 1 in both ears. Conclusion In most children with congenital CMV infection and isolated SNHL, the poorer-hearing ear worsened earlier and more precipitously than the better-hearing ear. This study suggests that monitoring individual hearing thresholds in both ears is important for appropriate interventions and future evaluation of efficacy of antiviral treatment.

Enlarged Vestibular Aqueduct in Pediatric SNHL

2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P104-P104
Author(s):  
Karuna Dewan ◽  
Judith C. Lieu
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Sensorineural Hearing Loss ◽  
Temporal Bone ◽  
Pediatric Population ◽  
Sensorineural Hearing ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Current Estimation ◽  
Temporal Bone Ct

Problem Current diagnostic criteria for enlarged vestibular aqueduct (EVA), >1.5mm at the midpoint, was determined in the pre-CT era by Valvassori. Recent research, based on 73 CTs from children with no sensorineural hearing loss (SNHL), suggests new criteria for the diagnosis of EVA—midpoint of >0.9mm or operculum >1.9mm. We evaluated the proposed new radiographic, Cincinnati criteria for the diagnosis of EVA. Methods In a retrospective cohort study, we reviewed temporal bone CT scans of 130 pediatric cochlear implant recipients to measure the vestibular aqueduct midpoint and opercular width and 5 other temporal bone dimensions. Results The Cincinnati criteria identified 44% of patients with EVA versus 16% with the Valvassori criterion (P < 0.01). Of those with EVA, 45% were unilateral and 55% were bilateral using Cincinnati criteria; 64% were unilateral and 36% bilateral using Valvassori criterion (P<0.01). Right and left side measurements of vestibular aqueduct operculum (r=0.67, P<0.01) and midpoint (r=0.58, P<0.01) correlated substantially. The Cincinnati criteria diagnosed 70 ears with EVA classified as normal using the Valvassori criterion (P<0.01). Of these 70 ears, 59 had no other medical explanation for their hearing loss. Conclusion The Cincinnati criteria identified a large percentage of pediatric cochlear implant patients with EVA who otherwise had no known etiology for their deafness. Significant correlations between right and left side measurements suggest that EVA may not be morphologically asymmetric as previously thought. Significance The Cincinnati criteria potentially alters the current estimation of the most common etiologies of bilateral severe-to-profound sensorineural hearing loss in the pediatric population. Support KD is a Doris Duke Clinical Research Fellow, supported by the Doris Duke Foundation.

scholarly journals Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation

1998 ◽  
Vol 6 (6) ◽  
pp. 563-569 ◽  
Author(s):  
Satoko Abe ◽  
Shin-ichi Usami ◽  
Hideichi Shinkawa ◽  
MikeD Weston ◽  
LarryD Overbeck ◽  
...  
Keyword(s):  
Phylogenetic Analysis ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
A1555g Mutation
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