Audiovestibular Quantification in Rare Third Window Disorders in Children

Dasgupta, Soumit; Ratnayake, Sudhira; Crunkhorn, Rosa; Iqbal, Javed; Strachan, Laura; Avula, Shivaram

doi:10.3389/fneur.2020.00954

Cited by 8 publications

(27 citation statements)

References 78 publications

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“…The thickness of the SCC wall was measured and a thickness of 0.5 mm or less in at least two planes was regarded as a thin SCC wall or near dehiscence. 4 In addition, clinical notes were reviewed for audio-logical assessment and genetic testing. All data were anonymized.…”

Section: Methodsmentioning

confidence: 99%

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis

Hogg

Turgut²,

McCann³

et al. 2022

Journal of Craniofacial Surgery

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Introduction: Apert syndrome is a multisystem genetic disorder typically characterized by craniosynostosis and syndactyly. Studies also report an increased incidence of hearing loss in children with Apert syndrome in comparison to the general population. The aim of this study was to gain an understanding of the inner ear radiological anatomical variations seen in children with Apert syndrome and correlate these with audiological outcomes. Materials and Methods: This was a retrospective review of computed tomography imaging of patients with Apert syndrome. Radiological images were examined for anatomical variations in inner ear structures. These were correlated with audiological testing. Results: Nineteen patients were included in the study. The most commonly observed anomaly was an absent bony window of the lateral semi-circular canal (SCC) in 11 patients (58%), followed by an enlarged lateral SCC in 12 patients (63%). This combination of anomalies was seen collectively in 42% of patients and together these give the appearance of a 'rectangular vestibular cavity'. Audiological results were available in 11 patients and 9 of these patients had a conductive hearing loss. Conclusion: To the authors' knowledge, this is the first study that reports radiological findings alongside audiological testing in Apert syndrome and describes the appearance of a 'rectangular vestibular cavity'.

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Section: Methodsmentioning

confidence: 99%

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis

Hogg

Turgut²,

McCann³

et al. 2022

Journal of Craniofacial Surgery

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“…35 Additionally, the absence of a vestibular-evoked myogenic potentials response should be measured at a lower stimulus level of 75 dB nHL, to rule out third window pathology such as semi-circular canal dehiscence. 37,38 Latency has less diagnostic relevance; however, changes in latency have been described as significant in neurological cases and multiple sclerosis cases. 39…”

Section: Vestibular-evoked Myogenic Potentials Testmentioning

confidence: 99%

Modernising vestibular assessment

Lennox-Bowley,

Dasgupta

2024

J. Laryngol. Otol.

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Background There is a high prevalence of dizziness, vertigo and balance symptoms in the general population. Symptoms can be generated by many inner-ear vestibular disorders and there are several diagnostic tests available that can help identify the site of the vestibular lesion. There is little consensus on what diagnostic tests are appropriate, with diagnostics either not completed or minimally performed, leading to missed diagnosis, unsatisfactory results for patients and costs to healthcare systems. Methods This study explored the literature for different neuro-vestibular diagnostic tests not currently considered in the traditional standard vestibular test battery, and examined how they fit effectively into a patient care pathway to help quickly and succinctly identify vestibular function. Results A vestibular patient care pathway is presented for acute and subacute presentation of vestibular disorders. Conclusion An accurate diagnosis following a rigorous anamnesis and vestibular testing is paramount for successful management and favourable outcomes.

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“…The X-linked group cumulatively constitutes about 1–5% of non-syndromic hearing loss [ 10 ]. DFNX2 is very rare [ 11 ] and true prevalence is unknown. Given that 1 in 1100 live births will show a congenital bilateral permanent hearing loss, of which 80% are non-syndromic genetic, and X-linked recessive hearing losses account for only 5% of this non syndromic group, of which 50% is DFNX2, the rough prevalence will be 0.0018 per 1100 live births.…”

Section: Introductionmentioning

confidence: 99%

“…The conductive component has been postulated to be due to a third-window effect that essentially arises due to a direct communication between the subarachnoid space in the cranial cavity and the perilymphatic space in the inner ear due to the incomplete cochlear partition and absent modiolus at the fundus of the IAM [ 14 , 15 ]. In a series of rare third-window abnormalities in children, DFNX2 accounted for about a fifth of all rare third-window disorders [ 11 ]. Vestibular function quantified with objective vestibulometry was reported only once [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

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X-Linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Mixed Hearing and Vestibular Loss

Dasgupta,

Hong,

Morris

et al. 2023

Audiology Research

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Conductive hearing losses are typically present in disorders of the external/middle ear. However, there is a rare group of inner ear conditions called third windows that can also generate a conductive hearing loss. This is due to an abnormal connection between the middle and the inner ear or between the inner ear and the cranial cavity. X-linked gusher disorder is an extremely rare congenital inner ear dysplastic syndrome with an abnormal connection due to a characteristic incomplete cochlear partition type III and an incomplete internal auditory meatus fundus. The disorder is inherited in an X-linked fashion due to the mutation of the POU3F4 gene. We present two siblings diagnosed with the condition and their long-term follow-ups. They both presented audiovestibular symptoms and showed progressive mixed losses and bilateral vestibular weakness. They were treated with cochlear implant, digital amplification and with vestibular rehabilitation. Significant others around them were involved in their journey with the medical team, and in both, a very favourable outcome was achieved. This is the first time that we have reported evolving audiovestibular function with vestibular quantification in X-linked gusher disorder and emphasize on the multidisciplinary holistic approach to manage these children effectively.

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Audiovestibular Quantification in Rare Third Window Disorders in Children

Cited by 8 publications

References 78 publications

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis

Modernising vestibular assessment

X-Linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Mixed Hearing and Vestibular Loss

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