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Vestibular Deficit in Patients with Waardenburg Syndrome
Mathilde Benifla1, Margaux Serey-Gaut2,3, Emilie Bois1
1Department of Otolaryngology, Robert Debré Hospital, AP-HP, Faculty of Medicine, Paris University, F-75019 Paris, France.
Biomedicines
|August 28, 2025
Summary
Waardenburg syndrome (WS) patients with sensorineural hearing loss (SNHL) frequently experience vestibular dysfunction. Genetic analysis, particularly involving SOX10 variations, is crucial for understanding and managing these inner ear deficits.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Waardenburg syndrome (WS) is a genetic disorder causing sensorineural hearing loss (SNHL) and pigmentation issues.
- Vestibular dysfunction is increasingly recognized as a feature of WS alongside hearing impairment.
Purpose of the Study:
- To investigate vestibular deficits in pediatric WS patients with SNHL.
- To correlate vestibular findings with molecular, audiometric, and radiological data.
- To establish distinct phenotypic profiles for WS subtypes and pathogenic variants.
Main Methods:
- Retrospective analysis of children with genetically confirmed WS.
- Inclusion of vestibular, auditory, and inner ear radiological assessments.
- Data collection from medical records between July 2000 and May 2022.
Main Results:
- Vestibular dysfunction was prevalent (64%), primarily affecting the canal (89%) and sometimes otolithic organs (33%).
- Patients with SOX10 pathogenic variations showed a significantly higher risk of vestibular dysfunction.
- Inner ear malformations were present in all SOX10-mutated subjects, unlike other WS gene variants.
Conclusions:
- Pediatric WS patients with SNHL exhibit a high prevalence of vestibular deficits, necessitating routine vestibular assessments.
- SOX10 mutations are associated with increased severity and prevalence of vestibular impairments.
- Molecular analysis is vital for accurate clinical diagnosis and management of WS patients.
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