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Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions
Jeremy Wolfberg1,2, Keerthana Chintalapati1,3, Shunji Tomatsu1,4,5,6
1Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Diagnostics (Basel, Switzerland)
|August 8, 2020
Summary
Hearing loss is common in most types of mucopolysaccharidoses (MPS), a group of genetic disorders. Early diagnosis and regular hearing tests are crucial for managing hearing loss in MPS patients.
Area of Science:
- Genetics
- Otolaryngology
- Biochemistry
Background:
- Mucopolysaccharidoses (MPS) are lysosomal storage disorders resulting from enzyme deficiencies impacting glycosaminoglycan degradation.
- Hearing loss is a frequent clinical manifestation across various MPS subtypes.
- Understanding the specific patterns and causes of hearing loss in MPS is critical for patient management.
Purpose of the Study:
- To review and synthesize existing literature on hearing loss across the seven recognized subtypes of Mucopolysaccharidoses.
- To identify patterns of hearing loss (conductive, sensorineural, mixed) associated with each MPS subtype.
- To highlight research gaps and recommend future directions for studying hearing dysfunction in MPS.
Main Methods:
- Comprehensive literature review of studies reporting hearing loss in patients with Mucopolysaccharidoses.
- Analysis of hearing loss prevalence and type for each of the seven MPS subtypes.
- Evaluation of current therapeutic approaches, such as enzyme replacement therapy (ERT), and their impact on hearing.
Main Results:
- Hearing loss is prevalent in MPS I, II, III, IVA, VI, and VII, but absent in MPS IVB and IX.
- MPS VI characteristically presents with conductive hearing loss; other subtypes can exhibit conductive, sensorineural, or mixed hearing loss.
- The etiology of progressive sensorineural hearing loss in MPS remains unclear, and ERT's effect on hearing is inconclusive.
Conclusions:
- Hearing loss is a significant issue in most MPS subtypes, necessitating careful audiological monitoring.
- Further multidisciplinary research involving behavioral and objective testing, alongside temporal bone imaging, is needed to understand hearing loss progression and etiology in MPS.
- Annual audiological evaluations and early diagnosis of hearing impairment are recommended for individuals with MPS.
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