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Early diagnosis of Usher syndrome in children
1Division of Ophthalmology, Northwestern University Medical School, Chicago, USA.
Insights
Screening children with severe to profound hearing loss for Usher syndrome is crucial. Early diagnosis via ophthalmologic exams and electroretinography enables timely cochlear implants, improving speech and listening skills.
Area of Science:
- Ophthalmology
- Audiology
- Genetics
Background:
- Usher syndrome is a leading cause of congenital sensorineural hearing loss and retinitis pigmentosa.
- Early identification of Usher syndrome in preverbal children is critical for intervention.
- Cochlear implantation offers significant benefits for auditory and speech development in affected children.
Observation:
- A screening protocol involving ophthalmologic examination and electroretinography was implemented.
- The study included consecutive patients aged 2 years and older with severe to profound, preverbal hearing loss.
Findings:
- 10.4% (5 out of 48) of screened children were diagnosed with Usher syndrome.
- These diagnosed children subsequently received cochlear implants.
Implications:
- Routine ophthalmologic screening, including electroretinography, is recommended for all children with severe to profound, preverbal sensorineural hearing loss.
- Early detection and intervention, such as cochlear implantation, can significantly enhance communication outcomes.
- This approach facilitates better integration of audiological and ophthalmological care for Usher syndrome patients.
Purpose:
To screen severe to profound, preverbal hearing-impaired children for Usher syndrome by ophthalmologic examinations, including electroretinographic testing. These patients are especially good candidates for early cochlear implants, which will improve listening and spoken language skills.
Methods:
Consecutive patients over 2 years of age, given a diagnosis of severe to profound, preverbal hearing loss, were screened for Usher syndrome by a complete ophthalmologic examination including an electroretinogram.
Results:
Five of 48 patients screened (10.4%) were diagnosed with Usher syndrome and received cochlear implants.
Conclusion:
All children with severe to profound, preverbal sensorineural hearing loss should be screened for Usher syndrome by ophthalmologic examination including electroretinogram.
