The genetics of otosclerosis: pedigree studies and linkage analysis.

Otosclerosis is one of the commonest causes of hearing loss in adults. The hereditary nature of the disease has been acknowledged for over a century but the precise genetic basis of the disorder has as yet not been characterised. It is currently recognised that familial otosclerosis exhibits autosomal dominant inheritance with variable penetrance and expression. More recently, family linkage studies have identified three chromosomal regions that can be ascribed to this disorder: otosclerosis 1 on chromosome 15, otosclerosis 2 on chromosome 7 and a third locus on chromosome 6. The genes responsible for the disease within these regions remain to be defined. The work presented in this paper firstly examined the familial nature of the disease in a cohort of individuals that had undergone surgery for otosclerosis. Following detailed ascertainment, pedigrees were constructed for subsequent genetic analysis. The laboratory analysis included linkage analysis of the candidate region on the long arm of chromosome 15, linkage analysis of the aggrecan protein gene within the 15q region and linkage analysis to chromosome 7q. The pedigree studies confirmed the hereditary nature of otosclerosis and the recognised mode of inheritance. Linkage to the chromosome 15 locus, the candidate aggrecan gene and the chromosome 7 locus was excluded, confirming that otosclerosis exhibits locus heterogeneity.

Cochlear implant outcomes and quality of life in the elderly: Manchester experience over 13 years.

OBJECTIVES: To objectively evaluate the clinical and functional outcomes of cochlear implantation in an elderly population. DESIGN: Retrospective comparative study. SETTING: Neurotology unit at Manchester Royal Infirmary, a supraregional tertiary referral centre in collaboration with Adult Cochlear Implant Programme at The University of Manchester. PARTICIPANTS: All cochlear implant procedures (38) undertaken on post-lingually deafened elderly patients (age range at the time of implantation 65-80 years, n = 34) in the period from 1989 to 2002. MAIN OUTCOME MEASURES: Medical and surgical outcomes. Audiological performance outcomes for isolated words, words in sentences in quiet and noise. Functional outcome measures used are self-reported measures of the social, psychological and emotional aspects of quality of life, and the differences between expectations for functional outcomes and the realization of functional outcomes. They included expectation profiles, Glasgow Benefit inventory (GBI) and Glasgow Health Status Inventory Questionnaire (GHSI). RESULTS: There was statistically significant improvement post-implantation of both open and closed set test scores (P < 0.01). Eighty-two percentage of patients were completely satisfied with their cochlear implants. Patients judged that implantation restored half the loss of quality of life that they had experienced as a result of severe-profound deafness with a highly significant (P < 0.001) improvement in overall quality of life after implantation. The commonest post-operative observation was transient mild pyrexia. CONCLUSIONS: The age of a cochlear implant candidate should not be a factor in the candidacy decision-making process. The quality of life of our elderly recipients was significantly improved after cochlear implant.