Inadequate healthcare is received by thousands of the United Kingdom’s Deaf patients because they are struggling to communicate with their healthcare providers, according to an article released on October 1, 2008 in BMJ.
Transforming Services for Children with Hearing Difficulty and their Families: A Good Practice Guide (DH)
from Clinical Governance
Further to the publication of ‘Improving Access to Audiology Services in England’ in March 2007, this document provides good practice and evidence to help commissioners and service providers to make changes to the way that paediatric hearing services are delivered, and in particular to reduce waits for patients with the most common hearing difficulties.
Objective: Mutations in Gap Junction Beta 2 (GJB2) (the gene encoding the protein Connexin 26) have been found to be a major cause of non-syndromic sensorineural recessive deafness. The mutations in GJB2 causing hearing impairment vary in different populations. The aim of this study was to determine the prevalence and spectrum of GJB2 mutations in prelingual deafness in a population of Bangladeshi origin in the UK.
Design: Cross-sectional survey.
Setting: Community based audiology clinic and tertiary level genetics department.
Methods: Fifty-three families (67 patients) with sensorineural hearing loss of unknown cause were included in the study. Detailed history and examination excluded syndromic and environmental causes of hearing loss in the subjects as far as possible. Genetic analysis was performed, specifically looking for mutations in the GJB2 gene.
Results: Of the 53 families, 14 were confirmed to have biallelic pathogenic mutations in GJB2 (26%). The most common mutations of GJB2 in this population were W24X, IVS1+1, M1V, W77X and Q124X, W24X being the most common mutation seen in 57% of patients.
Conclusion: Mutations in GJB2 are responsible for over one quarter of non-syndromic sensorineural deafness in the British Bangladeshi population. It is recommended that all Bangladeshi patients with non-syndromic hearing loss should be first tested for GJB2 mutations before requesting other aetiological investigations.
An angry mother and local GP has accused health managers of operating a postcode lottery because they will fund only one cochlear implant for her profoundly deaf child.
Deaf patients are now able to enjoy better access to GP services thanks to a new partnership between SignHealth – the healthcare charity for Deaf people – and EMIS, the UK’s leading provider of GP systems.