Cochlear Implantation in Children with Congenital Inner Ear Malformations

Buchman, Craig A.; Copeland, Benjamin J.; Yu, Kathy K.; Brown, Carolyn J.; Carrasco, Vincent N.; Pillsbury, Harold C.

doi:10.1097/00005537-200402000-00025

Cited by 145 publications

(126 citation statements)

References 19 publications

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“…His performance in speech perception is well within the range of patients with inner ear malformation. 17 No further clinical manifestations were obvious. In particular, renal laboratory parameters, abdominal ultrasound and ophthalmological examination were normal.…”

Section: Clinical Datamentioning

confidence: 97%

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

et al. 2013

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Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in 440 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss and the underlying genetic defect. Next-generation sequencing and subsequent segregation analysis detected a missense mutation (c.1771G4A, p.Gly591Ser) in the type IV collagen gene COL4A6 in all affected family members. Bioinformatic analysis and expression studies support this substitution as being causative. COL4A6 encodes the alpha-6 chain of type IV collagen of basal membranes, which forms a heterotrimer with two alpha-5 chains encoded by COL4A5. Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with X-linked Alport syndrome, a nephropathy associated with deafness and cataract, mutations in COL4A6 alone have not been related to any hereditary disease so far. Moreover, our index patient and other affected family members show normal renal and ocular function, which is not consistent with Alport syndrome, but with a nonsyndromic type of hearing loss. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. In conclusion, our results suggest COL4A6 as being the fourth gene associated with X-linked nonsyndromic hearing loss.

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Section: Clinical Datamentioning

confidence: 97%

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

et al. 2013

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“…Searching for the association of other malformations with the enlarged vestibular aqueduct and the diameter of the vestibular aqueduct were not relevant in predicting gusher during surgery. 6 In regards of developing speech skills, there is a marked difference between the many types of inner ear malformations. Unanimously, all cochlear implant centers that have performed surgery in children with inner ear malformations report that those with cochlear dysplasia, enlarged vestibular aqueduct and dilated vestibule, in other words, Mondini's malformation and, especially, those with EVAS are the ones that have the greatest gains in their development with cochlear implants in terms of word recognition and speech 6,14 .…”

Section: Resultsmentioning

confidence: 99%

“…Since this time, many studies were carried out in order to better characterize the syndrome and found that 59% to 94% of the cases were bilateral; 60% to 66% of the patients are female, and sensorineural hearing loss is progressive in 46% to 65% of the patients. [1][2][3][4][5][6]13,15 The enlarged vestibular aqueduct may happen as an isolated anomaly or in association with other inner ear malformations. The most common is the enlargement of the horizontal semi-circular canal, 60% to 66%, and cochlear hypoplasia, 28% 7 .…”

Section: Introductionmentioning

confidence: 99%

Implante coclear e síndrome do aqueduto vestibular alargado em crianças

Vassoler¹,

Bergonse²,

Meira

et al. 2008

Rev. Bras. Otorrinolaringol.

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Chi ldren with LVAS can develop a severe sensorineural hearing loss early in childhood, but they can be rehabilitated with hearing aids to continue their regular studies and to have a normal life. The problem is that they can deteriorate their hearing capacity, and at this point a cochlear implant can be used to preserve their hearing skills and vocalization. Aim: to evaluate the hearing skills of 3 children with LVAS referred to cochlear implants. Material: retrospective study based on medical charts' review. Results: Speech recognition in open field: patient 1, 80%; patient 2, 87.5%; patient 3, 4 %. Conclusion: Children with LVAS are considered good candidates for Cochlear implant surgery by the most important centers of the world because most of them can develop good speech recognition, providing them a good social life.

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“…Normally, the transverse diameter of this bony island measures between 2.6 and 4.8 mm. 17 Children with milder inner ear malformations (eg, vestibular aqueduct enlargement, IP-II, and partial SCC dysplasias) tend to perform better on tests of speech perception following cochlear implantation than children with other malformations (eg, common cavity or cochlear hypoplasia) or syndromes such as CHARGE syndrome, 18,19 but even the presence of a severe malformation (provided a cochlea is present) does not preclude implantation. Identification of these anom- alies is important in surgical planning, however, because the presence of cochlear malformations may make implant placement more challenging and also increases the risk for perilymph/CSF leak, postimplantation meningitis, and potential electrode misplacement, including placement into the IAC.…”

Section: Classification Of Inner Ear Malformationsmentioning

confidence: 99%

“…In addition, the facial nerve course is aberrant in approximately 15%-32% of patients with cochleovestibular anomalies, a finding that influences surgical planning and occasionally precludes placement of the cochleostomy in the optimal position in relation to the round window. 18,19 CND CND refers to the absence or reduction in caliber of the cochlear nerve and is observed in 12%-18% of ears affected with SNHL. 10,20 In pediatric patients, CND is usually congenital, but it can occasionally develop subsequent to birth due to atrophy of the nerve in patients who previously demonstrated normal hearing in the affected ear.…”

Section: Classification Of Inner Ear Malformationsmentioning

confidence: 99%

Pediatric Sensorineural Hearing Loss, Part 1: Practical Aspects for Neuroradiologists

Huang¹,

Zdanski²,

Castillo³

2011

AJNR Am J Neuroradiol

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SUMMARY: SNHL is a major cause of childhood disability worldwide, affecting 6 in 1000 children. For children with prelingual hearing loss, early diagnosis and treatment is critical to optimizing speech and language development, academic achievement, and social and emotional development. Cross-sectional imaging has come to play an important role in the evaluation of children with SNHL because otolaryngologists routinely order either CT or MR imaging to assess the anatomy of the inner ears, to identify causes of hearing loss, and to provide prognostic information related to potential treatments. In this article, which is the first in a 2-part series, we describe the basic clinical approach to imaging of children with SNHL, including the utility of CT and MR imaging of the temporal bones; we review the most recent proposed classification of inner ear malformations; and we discuss nonsyndromic congenital causes of childhood SNHL.ABBREVIATIONS: ABR ϭ auditory brain stem response; BCNC ϭ bony cochlear nerve canal; CISS ϭ constructive interference in steady state; CMV ϭ cytomegalovirus; CN ϭ cochlear nerve; CND ϭ cochlear nerve deficiency; FN ϭ facial nerve; FSE ϭ fast spin-echo; IAC ϭ internal auditory canal; IP-I ϭ incomplete partition type I; IP-II ϭ incomplete partition type II; SCC ϭ semicircular canal; SNHL ϭ sensorineural hearing loss; VA ϭ vertebral artery

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Cochlear Implantation in Children with Congenital Inner Ear Malformations

Cited by 145 publications

References 19 publications

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

Implante coclear e síndrome do aqueduto vestibular alargado em crianças

Pediatric Sensorineural Hearing Loss, Part 1: Practical Aspects for Neuroradiologists

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