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Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients
Thayse Bienert Goetze1, Pricila Sleifer2, Rafael Fabiano Machado Rosa1,3,4
1Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.
American Journal of Medical Genetics. Part A
|October 25, 2016
Summary
Oculoauriculovertebral spectrum (OAVS) patients often have hearing issues. Early audiology and speech pathology referrals are crucial for managing OAVS and improving speech therapy outcomes.
Area of Science:
- Genetics
- Developmental Biology
- Audiology
Background:
- Oculoauriculovertebral spectrum (OAVS), or Goldenhar syndrome, results from embryogenesis failures of the first and second branchial arches.
- OAVS leads to significant structural abnormalities, impacting various aspects of development.
- Understanding OAVS's audiological features is vital for comprehensive patient care.
Observation:
- This study assessed hearing in 10 individuals diagnosed with OAVS.
- Objective auditory assessments included tonal, vocal audiometry, TOAE, and BERA.
- Physical examinations revealed common OAVS features like microtia and ear canal atresia.
Findings:
- Five out of ten OAVS patients exhibited abnormal hearing.
- Hearing loss varied, including conductive (mild to moderate) and sensorineural (mild to profound).
- Three patients presented with bilateral hearing loss, underscoring the need for thorough audiological evaluation.
Implications:
- Early identification of hearing impairments in OAVS is critical.
- Prompt referral to audiologists and speech-language pathologists can enhance speech therapy effectiveness.
- Comprehensive understanding of OAVS clinical features aids in optimizing patient management and outcomes.
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