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Background

Congenital hearing loss is a chronic condition which occurs worldwide. In the past, investigations focused on testing the most common genes associated with hearing loss (such as Connexin 26-related hearing loss). Targeted testing of specific genes was requested only when a particular syndrome was suspected. Recent advances have led to the development of a large gene panel which utilises next-generation sequencing to simultaneously test for pathogenic variants in many genes associated with hearing loss.

Aim

This review article aims to highlight the changes in the approach to congenital hearing loss in the context of the R67 gene panel, and how its use may increase the efficiency of the diagnosis and management of this condition.

Conclusion

The use of this large gene panel has revolutionised the approach to hearing loss. Uptake of this large gene panel has resulted in prompter diagnosis and therefore more appropriate clinical management.

A middle ear effusion is a common complication of nasopharyngeal carcinoma both before and after radiotherapy. An effusion was found in 38 per cent of patients before radiotherapy and 9 per cent developed an effusion after the start of radiotherapy. Surgical treatment by myringotomy with or without grommet insertion was associated with a high incidence of otorrhoea (26 per cent) which was often refractory to treatment. In view of the frequency of this complication and the fact that a middle ear effusion may not be of concern to an adult patient with nasopharyngeal carcinoma, a ‘wait and see’ policy may be appropriate in the management of a middle ear effusion in these patients.

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Congenital hearing loss: introduction of the R67 large gene panel in England

The otological status of patients with nasopharyngeal carcinoma after megavoltage radiotherapy

Use of a glass ionomer cement in otological surgery. A preliminary report

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3 results

Congenital hearing loss: introduction of the R67 large gene panel in England

The otological status of patients with nasopharyngeal carcinoma after megavoltage radiotherapy

Use of a glass ionomer cement in otological surgery. A preliminary report