Definitions, Protocols and Guidelines in Genetic Hearing Impairment

by Martini, Alessandro; Mazzoli, Manuela; Stephens, Dai; Read, Andrew P.

• ISBN13: 9781861561886
• ISBN10: 1861561881
• Edition: 1st
• Format: Paperback
• Copyright: 2001-04-11
• Publisher: Wiley

Summary

This book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities.The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past.The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified.The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.

Author Biography

Alessandro Martini is the author of Definitions, Protocols and Guidelines in Genetic Hearing Impairment, published by Wiley. Manuela Mazzoli is the author of Definitions, Protocols and Guidelines in Genetic Hearing Impairment, published by Wiley.

Table of Contents

Introduction - putting together the pieces of the auditory puzzle

Terminology and Definitions

Audiological terms

Vestibular definitions

Epidemiological terms

Genetic terms

Protocols

Audiometric investigation of probands

Audiometric investigation of first degree relatives

Audiometric investigation of carriers

Vestibular protocol

Epidemiological criteria

The European congenital ear anomaly inventory

Protocol for syndromal disorders associated with hearing impairment

How to collaborate with a genetic lab

Phenotype/Genotype Correlation

Introduction - Genotypes and phenotypes of non-syndromal hearing impairments

Phenotype/Genotype correlation autosomal dominant and autosomal recessive non-syndromatic hearing impairment

X-genotypes and phenotypes of non-syndromal X-linked hearing impairment

Phenotype/genotype correlation hearing impairment with mitochondrial DNA mutations

Relevant web sites

The hereditary hearing loss homepage

Connexin 26 (GJB2) deafness homepage

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