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.
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