Persistence of otoacoustic emissions in children with auditory neuropathy spectrum disorders

Talaat, Hossam Sanyelbhaa; Khalil, Lobna Hamed; Khafagy, Ahmed Hafez; Alkandari, Mariyam M.; Zein, Ahmed M.

doi:10.1016/j.ijporl.2013.01.022

Cited by 8 publications

(6 citation statements)

References 8 publications

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“…The same was observed in another study 14 where 18 ears (11.7%) with ANSD fitted with hearing aids. The results showed that the decrease in the amplitude of the OAE in the ears fitted with hearing aids was higher than the non-aided ears.…”

Section: Discussionsupporting

confidence: 85%

“…The results showed that the decrease in the amplitude of the OAE in the ears fitted with hearing aids was higher than the non-aided ears. These results emphasize the possible role of amplification in the reduction of otoacoustic emissions in ANSD 14 .…”

Section: Discussionsupporting

confidence: 61%

“…In other studies there is no information whether this loss of cochlear function that happens in ANSD begins at high frequencies or low frequencies, or even if it occurs randomly. The data described in a study 14 shows that DP OAEs has been detected in 98.1% of participants with ANSD 3 to 6 years after diagnosis and that the amplitude of OAEs was reduced by less than 3 dB in 77.3% of the sample and by more than 3 dB 20.8% of the sample.…”

Section: Discussionmentioning

confidence: 91%

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Auditory neuropathy spectrum: the importance of adequate diagnosis

Caldas¹,

Silva²,

Teixeira³

et al. 2012

The International Tinnitus Journal

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Within the selected eight ears, six (75%) showed presence of otoacoustic emissions test in isolated frequencies and two (25%) ears had otoacoustic emissions test even in the presence of the isolated frequencies. It was found that 26.7% of the ears tested presented results that are compatible with Auditory Neuropathy Spectrum Disorder. Conclusion:The results of this study have identified characteristics related to ANSD in 26.7% of ears tested, 6 participants with age over 10 years old, showing that misdiagnosis in hearing loss patients is still very frequent.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionsupporting

confidence: 61%

Section: Discussionmentioning

confidence: 91%

See 1 more Smart Citation

Auditory neuropathy spectrum: the importance of adequate diagnosis

Caldas¹,

Silva²,

Teixeira³

et al. 2012

The International Tinnitus Journal

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“…As in individual 4.1, OAE may reduce or disappear over time in a small number of individuals with auditory neuropathy. Their retention should not be considered the only marker of auditory neuropathy, and individuals with acquired hearing loss should also be assessed with an ABR . It is not yet clear if riboflavin transporter deficiency can present with congenital hearing loss.…”

Section: Discussionmentioning

confidence: 99%

“…Their retention should not be considered the only marker of auditory neuropathy, and individuals with acquired hearing loss should also be assessed with an ABR. 37 It is not yet clear if riboflavin transporter deficiency can present with congenital hearing loss. Individual 1.1 in our cohort had hearing loss identified soon after birth, though its early occurrence may have been caused by a different recessive genetic cause of hearing loss prevalent in the family.…”

Section: Discussionmentioning

confidence: 99%

Auditory neuropathy in Brown–Vialetto–Van Laere syndrome due to riboflavin transporter RFVT2 deficiency

Menezes

O’Brien

Hill

et al. 2016

Develop Med Child Neuro

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ABBREVIATIONS ABR Auditory brainstem reflexes ANSD Auditory neuropathy spectrum disorder BVVL Brown-Vialetto-Van Laere syndrome OAE Otoacoustic emissions AIM Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown-Vialetto-Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency would enable early diagnosis and therapy. METHOD We performed hearing assessments in seven children (from four families) with RFVT2 deficiency and reviewed results from previous assessments. Assessments were repeated after 12 months and 24 months of riboflavin therapy and after cochlear implantation in one individual. RESULTS Hearing loss in these individuals was due to auditory neuropathy spectrum disorder (ANSD). Hearing loss was identified between 3 years and 8 years of age and progressed rapidly. Hearing aids were not beneficial. Riboflavin therapy resulted in improvement of hearing thresholds during the first year of treatment in those with recent-onset hearing loss. Cochlear implantation resulted in a significant improvement in speech perception in one individual. INTERPRETATION Riboflavin transporter deficiency should be considered in all children presenting with an auditory neuropathy. Speech perception in children with ANSD due to RFVT2 deficiency may be significantly improved by cochlear implantation. Brown-Vialetto-Van Laere syndrome (BVVL) is a progressive neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. 1 Recently, mutations in SLC52A2 and SLC52A3, encoding the riboflavin transporters RFVT2 and RFVT3 respectively, have been identified in a number of individuals with BVVL. 2,3 The phenotype of individuals with RFVT2 deficiency includes hearing loss and sensory ataxia with an onset in early childhood , followed by progressive upper limb weakness, optic atrophy, bulbar weakness, and respiratory failure. 4 While the clinical phenotype of children with BVVL due to RFVT2 deficiency has been reported in detail, the characteristics of the hearing loss have not been explored, despite it often being a presenting or early feature in affected individuals. Reports of individuals with RFVT2 deficiency and of genetically undifferentiated cohorts of individuals with BVVL classify the hearing impairment as a 'sen-sorineural hearing loss' without a clear description of its characteristics. 1,4 Functional studies have demonstrated that SLC52A2 mutations reduce riboflavin transporter expression and riboflavin uptake. 4,5 Riboflavin is critical for the biosynthe-sis of flavin mononucleotide and flavin adenine dinu-cleotide, important cofactors for carbohydrate, amino-acid, and lipid metabolism. Flavin adenine dinucleotide acts as an electron acceptor in acyl-CoA dehydrogenation reactions in mitochondrial fatty acid b-oxidation and bra...

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International consensus (ICON) on audiological assessment of hearing loss in children

Farinetti

Raji

et al. 2018

European Annals of Otorhinolaryngology, Head and Neck Diseases

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The prevalence of hearing loss in newborns and infants is estimated between 1 to 3.47 cases per 1000 live births. Early diagnosis and rehabilitation of congenital hearing loss are mandatory in order to achieve a satisfactory linguistic and cognitive development. Without appropriate opportunities to learn language, these children will fall behind their normal hearing peers in communication, cognition, reading and socio-emotional development. After promising results, neonatal screening for hearing loss and audiological evaluation are becoming more extensively carried out. In planning universal neonatal hearing screening programs, transient evoked otoacoustic emissions and auditory brainstem responses are the gold standard for the screening and diagnosis program. However, there is no consensus regarding the use of audiometry and other electrophysiological tests (such as auditory steady-state responses) in current practices. Several screening and audiological assessment procedures have been described and advocated all around the world. But, a systematic scheme of performing diagnosis in the pediatric audiology population is lacking. A consensus conference was held at the International Federation of Oto-rhino-laryngological Societies Congress, in June 2017, to discuss the different current practices and to identify the best neonatal hearing screening and audiological assessment management. This article is intended to provide professionals with recommendations about the "best practice" based on consensus opinion of the session's speakers, and a review of the literature on the efficacy of various assessment options for children with hearing loss.

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Persistence of otoacoustic emissions in children with auditory neuropathy spectrum disorders

Cited by 8 publications

References 8 publications

Auditory neuropathy spectrum: the importance of adequate diagnosis

Auditory neuropathy spectrum: the importance of adequate diagnosis

Auditory neuropathy in Brown–Vialetto–Van Laere syndrome due to riboflavin transporter RFVT2 deficiency

International consensus (ICON) on audiological assessment of hearing loss in children

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