Delineating the Hearing Loss in Children With Enlarged Vestibular Aqueduct

Zhou, Guangwei; Gopen, Quinton; Kenna, Margaret A.

doi:10.1097/mlg.0b013e31818208ad

Cited by 51 publications

(65 citation statements)

References 14 publications

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“…There are several syndromes in which patients develop a postlingual hearing loss such as Alport syndrome [Barker et al, 1996], neurofibromatosis type II [Ferner, 2007], Norrie syndrome [Halpin and Sims, 2008], osteogenesis imperfecta [Kuurila et al, 2002], enlarged vestibular aqueduct deformation [Zhou et al, 2008], and Usher syndrome [Pennings et al, 2003]. An unidentified hearing loss in the young child has detrimental effects on the speech development.…”

Section: Discussionmentioning

confidence: 99%

Floating‐Harbor syndrome associated with middle ear abnormalities

Hendrickx

Keymolen

Desprechins

et al. 2009

American J of Med Genetics Pt A

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Floating-Harbor syndrome is a rare syndrome of unknown etiology, which was first described in 1973. A triad of main features characterizes Floating-Harbor syndrome: short stature, characteristic face, and an expressive speech delay. We present a patient in whom the hearing thresholds improved insufficiently after placement of grommets. High-resolution CT scan of the temporal bone showed a prominent soft-tissue thickening suspected of causing fixation of the malleus, and fusion of the malleus head with the body of the incus. To our knowledge this is the first reported abnormal middle ear anatomy in a patient with Floating-Harbor syndrome. A conservative treatment with hearing aids was preferred as an initial treatment in favor of a surgical exploration.

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Section: Discussionmentioning

confidence: 99%

Floating‐Harbor syndrome associated with middle ear abnormalities

Hendrickx

Keymolen

Desprechins

et al. 2009

American J of Med Genetics Pt A

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“…First, the hearing impairment was profound in these mice, although patients with SLC26A4 mutations demonstrate a wide variety in audiological features. Some patients exhibit a milder hearing impairment that deteriorates with time, either progressively or after attacks of fluctuating hearing loss [31], [32]. Second, a significant proportion of mutant mice revealed severely impaired vestibular function, but patients with SLC26A4 mutations usually do not complain of vestibular symptoms, except during attacks of vertigo.…”

Section: Discussionmentioning

confidence: 99%

Establishment of a Knock-In Mouse Model with the SLC26A4 c.919-2A>G Mutation and Characterization of Its Pathology

Shen

et al. 2011

PLoS ONE

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Recessive mutations in the SLC26A4 gene are a common cause of hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations may have different pathogenetic mechanisms. In the present study, we established a knock-in mouse model (i.e., Slc26a4tm1Dontuh/tm1Dontuh mice) homozygous for the c.919-2A>G mutation, which is a common mutation in East Asians. Mice were then subjected to audiologic assessment, a battery of vestibular evaluations, and inner ear morphological studies. All Slc26a4tm1Dontuh/tm1Dontuh mice revealed profound hearing loss, whereas 46% mice demonstrated pronounced head tilting and circling behaviors. There was a significant difference in the vestibular performance between wild-type and Slc26a4tm1Dontuh/tm1Dontuh mice, especially those exhibiting circling behavior. Inner ear morphological examination of Slc26a4tm1Dontuh/tm1Dontuh mice revealed an enlarged endolymphatic duct, vestibular aqueduct and sac, atrophy of stria vascularis, deformity of otoconia in the vestibular organs, consistent degeneration of cochlear hair cells, and variable degeneration of vestibular hair cells. Audiologic and inner ear morphological features of Slc26a4tm1Dontuh/tm1Dontuh mice were reminiscent of those observed in humans. These features were also similar to those previously reported in both knock-out Slc26a4−/− mice and Slc26a4loop/loop mice with the Slc26a4 p.S408F mutation, albeit the severity of vestibular hair cell degeneration appeared different among the three mouse strains.

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“…Although hearing loss is often sensorineural, bone conduction threshold testing can reveal a mixed (conductive plus sensorineural) hearing loss at low frequencies associated with normal tympanometry and middle ear findings 59-62 , and an abnormal vestibular evoked myogenic potential result 63 . These findings are thought to be due to a “third window” effect upon sound transmission within the labyrinth 64 .…”

Section: Pathogenesis Of Hearing Loss Associated With Evamentioning

confidence: 99%

SLC26A4mutation testing for hearing loss associated with enlargement of the vestibular aqueduct

Ito

Muskett

Chattaraj

et al. 2013

WJO

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Pendred syndrome (PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct (EVA), and mutations of the SLC26A4 gene. However, not all EVA patients have PS or SLC26A4 mutations. Two mutant alleles of SLC26A4 are detected in ¼ of North American or European EVA populations, one mutant allele is detected in another ¼ of patient populations, and no mutations are detected in the other ½. The presence of two mutant alleles of SLC26A4 is associated with abnormal iodide organification, increased thyroid gland volume, increased severity of hearing loss, and bilateral EVA. The presence of a single mutant allele of SLC26A4 is associated with normal iodide organification, normal thyroid gland volume, less severe hearing loss and either bilateral or unilateral EVA. When other underlying correlations are accounted for, the presence of a cochlear malformation or the size of EVA does not have an effect on hearing thresholds. This is consistent with observations of an Slc26a4 mutant mouse model of EVA in which hearing loss is independent of endolymphatic hydrops or inner ear malformations. Segregation analyses of EVA in families suggest that the patients carrying one mutant allele of SLC26A4 have a second, undetected mutant allele of SLC26A4, and the probability of a sibling having EVA is consistent with its segregation as an autosomal recessive trait. Patients without any mutations are an etiologically heterogeneous group in which siblings have a lower probability of having EVA. SLC26A4 mutation testing can provide prognostic information to guide clinical surveillance and management, as well as the probability of EVA affecting a sibling.

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Delineating the Hearing Loss in Children With Enlarged Vestibular Aqueduct

Cited by 51 publications

References 14 publications

Floating‐Harbor syndrome associated with middle ear abnormalities

Floating‐Harbor syndrome associated with middle ear abnormalities

Establishment of a Knock-In Mouse Model with the SLC26A4 c.919-2A>G Mutation and Characterization of Its Pathology

SLC26A4mutation testing for hearing loss associated with enlargement of the vestibular aqueduct

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