Unilateral sensorineural hearing loss and its aetiology in childhood: the contribution of computerised tomography in aetiological diagnosis and management

Bamiou, Doris‐Eva; Savy, Lloyd; O'Mahoney, C; Phelps, P. D.; Sirimanna, Tony

doi:10.1016/s0165-5876(99)00261-x

Cited by 55 publications

(52 citation statements)

References 17 publications

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“…26 Furthermore, some hereditary forms of hearing loss, such as neurofibromatosis type 2, enlarged vestibular aqueduct syndrome, and Pendred syndrome, may present ACMG PrACtiCe Guidelines initially as unilateral hearing loss. 19,20,[27][28][29] Given the challenges that can exist in distinguishing between syndromic and nonsyndromic forms of hearing loss, all children and adolescents showing hearing loss without a known etiology, e.g., confirmed GJB2 mutations or documented congenital cytomegalovirus (CMV) infection, should be evaluated for syndromic conditions by a clinical geneticist. 15,16 An estimated 70% of genetic hearing loss is nonsyndromic.…”

Section: Genetic and Nongenetic Etiologies Of Hearing Lossmentioning

confidence: 99%

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Alford

Arnos

Fox

et al. 2014

Genetics in Medicine

214

134

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DEFINITIONSDeaf: a community with a distinct culture and language shaped by the experience of being deaf or hard of hearing, which may include deaf, hard-of-hearing, and hearing individuals deaf: an auditory phenotype characterized by a total or neartotal loss of the ability to hear hard of hearing: an auditory phenotype characterized by a partial loss of the ability to hear hearing loss: an auditory phenotype characterized by any degree of loss of the ability to hear; depending on cause, hearing loss can be temporary or permanent-this guideline focuses on permanent hearing loss Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of a hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard of hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health-care services are provided in a linguistically and culturally sensitive manner. This guideline offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.

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Section: Genetic and Nongenetic Etiologies Of Hearing Lossmentioning

confidence: 99%

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Alford

Arnos

Fox

et al. 2014

Genetics in Medicine

214

134

View full text Add to dashboard Cite

show abstract

“…Cochlear dysplasia (or malformation) is usually, but not always, associated with hearing loss (Bamiou et al 1999;Coticchia et al 2006;Jackler et al 1987;Schuknecht 1993). While commonly identified clinically during the evaluation of a patient with congenital hearing loss, the effects of dysplasia on cochlear mechanics have not been well defined.…”

Section: Introductionmentioning

confidence: 99%

Altered Traveling Wave Propagation and Reduced Endocochlear Potential Associated with Cochlear Dysplasia in the BETA2/NeuroD1 Null Mouse

Xia

Visosky

Cho

et al. 2007

JARO

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The BETA2/NeuroD1 null mouse has cochlear dysplasia. Its cochlear duct is shorter than normal, there is a lack of spiral ganglion neurons, and there is hair cell disorganization. We measured vertical movements of the tectorial membrane at acoustic frequencies in excised cochleae in response to mechanical stimulation of the stapes using laser doppler vibrometry. While tuning curve sharpness was similar between wild-type, heterozygotes, and null mice in the base, null mutants had broader tuning in the apex. At both the base and the apex, null mice had less phase lag accumulation with increasing stimulus frequency than wild-type or heterozygote mice. In vivo studies demonstrated that the null mouse lacked distortion product otoacoustic emissions, and the cochlear microphonic and endocochlear potential were found to be severely reduced. Electrically evoked otoacoustic emissions could be elicited, although the amplitudes were lower than those of wild-type mice. Cochlear cross-sections revealed an incomplete partition malformation, with fenestrations within the modiolus that connected the cochlear turns. Outer hair cells from null mice demonstrated the normal pattern of prestin expression within their lateral walls and normal FM 1-43 dye entry.Overall, these data demonstrate that while tonotopicity can exist with cochlear dysplasia, traveling wave propagation is abnormally fast. Additionally, the presence of electrically evoked otoacoustic emissions suggests that outer hair cell reverse transduction is present, although the acoustic response is shaped by the alterations in cochlear mechanics.

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“…This is a relatively high incidence when compared with that reported in the literature [3][4][5][6][7][8]12] and might be accepted in a pilot study with a limited number of patients. Developmental growth of the VA throughout infancy and early childhood has been described, indicating that EVA may result from abnormal postnatal and pre-adolescent development and reaches the adult size at 3-4 years [13,14].…”

Section: Discussionmentioning

confidence: 81%

“…Audiological Features of the SNHL SNHL in patients with EVA has been reported to be fluctuating, stable or progressive [4,6] following trigger activities such as minor head trauma, jogging, or common colds [2,7,19,24,27,28]. Because of lack of serial audiometric data in our patients, we could not examine the progression of SNHL.…”

Section: Discussionmentioning

confidence: 93%

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Enlarged Vestibular Aqueduct in Congenital Non-Syndromic Sensorineural Hearing Loss in Egypt

Abou-Elew

El-Khousht

El-Minawi

et al. 2011

Indian J Otolaryngol Head Neck Surg

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Unilateral sensorineural hearing loss and its aetiology in childhood: the contribution of computerised tomography in aetiological diagnosis and management

Cited by 55 publications

References 17 publications

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Altered Traveling Wave Propagation and Reduced Endocochlear Potential Associated with Cochlear Dysplasia in the BETA2/NeuroD1 Null Mouse

Enlarged Vestibular Aqueduct in Congenital Non-Syndromic Sensorineural Hearing Loss in Egypt

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