Inner Ear Dysplasia is Common in Children With Down Syndrome (trisomy 21)

Blasér, Susan; Propst, Evan J.; Martin, Daniel; Feigenbaum, Annette; James, Adrian L.; Shannon, Patrick; Papsin, Blake C.

doi:10.1097/01.mlg.0000245034.77640.4f

Cited by 85 publications

(57 citation statements)

References 26 publications

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“…A variant of the IAC with a funnel-shaped appearance was described in the rare branchio-oto-renal syndrome [11] and bilateral enlargement of the IAC was found in Paget`s disease [12]. In Down syndrome (Trisomia 21) IAC duplication was seen [13].…”

Section: Kernaussagenmentioning

confidence: 99%

Nontumorous Enlargement of the Internal Auditory Canal: A Risk Factor for Sensorineural Hearing Loss? A High Resolution CT-Study

Stimmer

Niedermeyer

Kehl

et al. 2015

Fortschr Röntgenstr

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Purpose: First aim of the study was to define normal shape and diameter of the internal auditory canal (IAC). In the second part the clinical relevance of IAC-enlargement was analyzed, considering also lesions of the subtle structures at the fundus of the internal auditory canal. Materials and Methods: 440 high resolution CT-scans of the temporal bone were used for retrospective analysis of the internal auditory canal and its fundus region. Results: The mean value of the IAC diameter in axial and coronal plane was determined. In 20 of 440 patients IAC enlargement was found. In the group with pronounced enlargement (3fold SD) nearly all patients suffered from hearing impairment. In some of them we found structural abnormalities near the IAC fundus in the CSF/perilymph border zone. Conclusion: A new CT-based definition of normal shape and diameter of the internal auditory canal is presented. There is some evidence that a pathologic transmission of CSF-pressure in case of IAC-enlargement and/or abnormal fistulous communications could play an important role in the pathophysilogy of hearing loss. Key points: ??New CT-based definition of normal internal auditory canal. ??Nearly all patients showing pronounced IAC-enlargement suffer from hearing impairment. ??Possible pathomechanism: Transmission of CSF-pressure on the inner ear. Citation Format: ??Stimmer H, Niedermeyer HP, Kehl V et?al. Nontumorous Enlargement of the Internal Auditory Canal: A Risk Factor for Sensorineural Hearing Loss? A High Resolution CT-Study. Fortschr R?ntgenstr 2015; 187: 450???458

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Section: Kernaussagenmentioning

confidence: 99%

Nontumorous Enlargement of the Internal Auditory Canal: A Risk Factor for Sensorineural Hearing Loss? A High Resolution CT-Study

Stimmer

Niedermeyer

Kehl

et al. 2015

Fortschr Röntgenstr

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“…Over 80% of the hearing loss is conductive and in children much of this is due to otitis media with effusion, therefore amenable to medical and surgical intervention [6]. However, between 4 and 20% of hearing loss in this population is due to sensorineural hearing loss [7]. Until relatively recently this type of hearing loss has only been amenable to attempts at amplification and non-oral communication techniques.…”

Section: Introductionmentioning

confidence: 99%

UK and Ireland experience of cochlear implants in children with Down Syndrome

Hans

England

Prowse

et al. 2010

International Journal of Pediatric Otorhinolaryngology

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“…Our search identified 449 unique studies, of which 36 met the initial inclusion criteria. Most studies were excluded at the abstract or primary manuscript review stage, but six manuscripts were excluded at the data extraction stage because there were no relevant primary data identified about cholesteatoma or genetic phenomena, or because the study described external auditory canal cholesteatoma . The studies identified in the initial search were supplemented by five additional reports identified by hand‐searching citation lists .…”

Section: Resultsmentioning

confidence: 99%

The genetics of cholesteatoma. A systematic review using narrative synthesis

Jennings

Prinsley

Philpott

et al. 2017

Clinical Otolaryngology

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Objective: A cholesteatoma is a mass of keratinising epithelium in the middle ear. It is a rare disorder that is associated with significant morbidity, and its causative risk factors are poorly understood; on a global scale, up to a million people are affected by this each year. We have conducted a systematic literature review to identify reports about the heritability of cholesteatoma or any constitutional genetic factors that may be associated with its aetiology.Data Sources: A systematic search of MEDLINE (EBSCO) and two databases of curated genetic research (OMIM and Phenopedia) was conducted.Study Selection: The participants and populations of interest for this review were people treated for cholesteatoma and their family members. The studies of interest reported evidence of heritability for the trait, or any association with congenital syndromes and particular genetic variants.Data Extraction: The searches identified 449 unique studies, of which 35 were included in the final narrative synthesis.Data Synthesis: A narrative synthesis was conducted, and data were tabulated to record characteristics, including study design, genetic data and author conclusions.Most of the studies identified in the literature search, and described here, are case reports and so represent the lowest level of evidence. In a few case reports, congenital and acquired cholesteatomas have been shown to segregate within families in the pattern typical of a monogenic or oligogenic disorder with incomplete penetrance. Evidence from syndromic cases could suggest that genes controlling ear morphology may be risk factors for cholesteatoma formation.Conclusions: This is the first systematic review about the genetics of cholesteatoma, and we have identified a small body of relevant literature that provides evidence of a heritable component for its aetiology. Cholesteatoma is a complex and heterogeneous clinical phenotype, and it is often associated with chronic otitis media and with some rare congenital syndromes known to affect ear morphology and related pathologies.

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Inner Ear Dysplasia is Common in Children With Down Syndrome (trisomy 21)

Cited by 85 publications

References 26 publications

Nontumorous Enlargement of the Internal Auditory Canal: A Risk Factor for Sensorineural Hearing Loss? A High Resolution CT-Study

Nontumorous Enlargement of the Internal Auditory Canal: A Risk Factor for Sensorineural Hearing Loss? A High Resolution CT-Study

UK and Ireland experience of cochlear implants in children with Down Syndrome

The genetics of cholesteatoma. A systematic review using narrative synthesis

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