Enlarged Vestibular Aqueduct: Audiological and Vestibular Profiles in Siblings with Genetic Mutations

被引：0

作者：

Bhogade, Madhuri ^{[1
]}

Dutta, Kristi Kaveri ^{[1
]}

Lodha, Vidhi ^{[1
]}

Neupane, Anuj Kumar ^{[1
]}

机构：

[1] Bharati Vidyapeeth, Sch Audiol & Speech Language Pathol, Dept Audiol, Pune, India

来源：

INDIAN JOURNAL OF OTOLARYNGOLOGY AND HEAD & NECK SURGERY | 2025年 / 77卷 / 03期

关键词：

Radiological assessment; Enlarged vestibular aqueduct; Imbalance; Hearing aids; Video head impulse test; Stimulation; HEARING-LOSS;

D O I：

10.1007/s12070-025-05366-y

中图分类号：

R61 [外科手术学];

学科分类号：

摘要：

This study examines audiological and vestibular profiles in siblings with Enlarged Vestibular Aqueduct (EVA) and gene mutations. Despite normal vestibular test results, the elder sibling reported falls, highlighting subclinical vestibular dysfunction. Findings emphasize the importance of genetic testing, comprehensive evaluations, and early intervention to manage progressive symptoms and improve quality of life.

引用

页码：1654 / 1659

页数：6

共 10 条

[1]

[Anonymous], 2015, ENT AUDIOLOGY NEWS

[2] Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features [J].

Berrettini, S ;

Forli, F ;

Bogazzi, F ;

Neri, E ;

Salvatori, L ;

Casani, AP ;

Franceschini, SS .

AMERICAN JOURNAL OF OTOLARYNGOLOGY, 2005, 26 (06) :363-371

[3] Vestibular anomalies and dysfunctions in children with inner ear malformations: A narrative review [J].

Brotto, Davide ;

Ariano, Marzia ;

Sozzi, Mose ;

Cenedese, Roberta ;

Muraro, Eva ;

Sorrentino, Flavia ;

Trevisi, Patrizia .

FRONTIERS IN PEDIATRICS, 2023, 11

[4] Audiological findings in large vestibular aqueduct syndrome [J].

Govaerts, PJ ;

Casselman, J ;

Daemers, K ;

De Ceulaer, G ;

Somers, T ;

Offeciers, FE .

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 1999, 51 (03) :157-164

[5] Genetics of Hearing Loss Syndromic [J].

Koffler, Tal ;

Ushakov, Kathy ;

Avraham, Karen B. .

OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA, 2015, 48 (06) :1041-1061

[6] Insidious Cases of Enlarged Vestibular Aqueduct (EVA) Syndrome Resembling Otosclerosis: Clinical Features for Differential Diagnosis and the Role of High-Resolution Computed Tomography in the Pre-Operative Setting [J].

Motta, Giovanni ;

Allosso, Salvatore ;

Castagna, Ludovica ;

Trifuoggi, Ghita ;

Di Meglio, Tonia ;

Testa, Domenico ;

Mesolella, Massimo ;

Motta, Gaetano .

AUDIOLOGY RESEARCH, 2024, 14 (04) :593-601

[7] Classification and Current Management of Inner Ear Malformations [J].

Sennaroglu, Levent ;

Bajin, Munir Demir .

BALKAN MEDICAL JOURNAL, 2017, 34 (05) :397-411

[8] Vestibular-evoked myogenic potentials in three patients with large vestibular aqueduct [J].

Sheykholeslami, K ;

Schmerber, S ;

Kermany, MH ;

Kaga, K .

HEARING RESEARCH, 2004, 190 (1-2) :161-168

[9] Sensorineural hearing loss in children [J].

Smith, RJH ;

Bale, JF ;

White, KR .

LANCET, 2005, 365 (9462) :879-890

[10] Evidence of vestibular dysfunction in children with enlarged vestibular aqueduct [J].

Zhou, Guangwei ;

Wang, Alicia ;

Brodsky, Jacob .

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2023, 169

← 1 →