Cochlear active mechanisms in young normal-hearing subjects affected by Williams syndrome: Time–frequency analysis of otoacoustic emissions

Paglialonga, Alessia; Barozzi, S.; Brambilla, Daniele; Soi, Daniela; Cesarani, Antonio; Gagliardi, Chiara; Comiotto, Elisabetta; Spreafico, Emanuela; Tognola, Gabriella

doi:10.1016/j.heares.2010.10.004

Cited by 19 publications

(21 citation statements)

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“…[15][16][17][18] However, there is no evidence in our mice of a mechanism within the auditory signal processing pathway that might explain the auditory allodynia in WBS patients. 32 It is possible that this phenomenon results from Figure 5 Distortion products otoacoustic emission (DPOAE) thresholds.…”

Section: Discussionmentioning

confidence: 62%

“…[13][14][15] SNHL in WBS has been shown to be progressive and the prevalence may develop to~80% of subjects over time. 16 Although many younger WBS patients seem to have hearing in the normal range, it is generally agreed that analysis of otoacoustic emissions from the cochlea of these patients indicates high rates of abnormalities, [15][16][17][18] suggesting a degree of 'cochlear fragility', 15 associated with altered sound transduction. Measurement of the distortion product of otoacoustic emissions (DPOAEs) is a non-invasive, highly sensitive, objective measure of the cochlear amplifier mechanism mediated by the outer hair cells.…”

Section: Introductionmentioning

confidence: 99%

“…16 The cause of the auditory pathology in WBS is currently unknown and has led some to speculate on a possible contribution from the observed effects of premature ageing and/or a high predisposition for noise-induced cochlear damage that could be connected to the so-called hyperacusis. 17 Involvement of the haploinsufficiency of elastin due to hemizygous loss of the ELN gene is a popular hypothesis 15,17,18 because of its profound impact on other organ systems and expression of the gene in several key hearing structures. Loss of the LIMK1 gene has also been implicated as it encodes a kinase that regulates actin reorganisation and has a role in the control of outer hair cell motility.…”

Section: Introductionmentioning

confidence: 99%

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The role of GTF2IRD1 in the auditory pathology of Williams–Beuren Syndrome

et al. 2014

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Williams-Beuren Syndrome (WBS) is a rare genetic condition caused by a hemizygous deletion involving up to 28 genes within chromosome 7q11.23. Among the spectrum of physical and neurological defects in WBS, it is common to find a distinctive response to sound stimuli that includes extreme adverse reactions to loud, or sudden sounds and a fascination with certain sounds that may manifest as strengths in musical ability. However, hearing tests indicate that sensorineural hearing loss (SNHL) is frequently found in WBS patients. The functional and genetic basis of this unusual auditory phenotype is currently unknown. Here, we investigated the potential involvement of GTF2IRD1, a transcription factor encoded by a gene located within the WBS deletion that has been implicated as a contributor to the WBS assorted neurocognitive profile and craniofacial abnormalities. Using Gtf2ird1 knockout mice, we have analysed the expression of the gene in the inner ear and examined hearing capacity by evaluating the auditory brainstem response (ABR) and the distortion product of otoacoustic emissions (DPOAE). Our results show that Gtf2ird1 is expressed in a number of cell types within the cochlea, and Gtf2ird1 null mice showed higher auditory thresholds (hypoacusis) in both ABR and DPOAE hearing assessments. These data indicate that the principal hearing deficit in the mice can be traced to impairments in the amplification process mediated by the outer hair cells and suggests that similar mechanisms may underpin the SNHL experienced by WBS patients.

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Section: Discussionmentioning

confidence: 62%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The role of GTF2IRD1 in the auditory pathology of Williams–Beuren Syndrome

et al. 2014

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“…Emerging evidence suggests that the timeefrequency analysis of CEOAEs can be useful for detecting subtle changes in cochlear mechanisms in various clinical populations (Bhagat et al, 2013;Jedrzejczak et al, 2005;Keefe, 2012;Narne et al, 2014;Paglialonga et al, 2011). However, it is currently unclear which timeefrequency approach provides the most accurate and robust representation of CEOAEs and whether this representation is dependent on the recording variables.…”

Section: Discussionmentioning

confidence: 99%

“…By nature, one individual gammatone is expected to have one peak, with its energy spread around the peak value. The continuous WT has been commonly used to analyze the timeefrequency properties of CEOAEs (Bhagat et al, 2013;Moleti and Sisto, 2003;Narne et al, 2014;Paglialonga et al, 2011;Tognola et al, 1997).…”

Section: Timeefrequency Representationmentioning

confidence: 99%