Biology Reference
In-Depth Information
emotional state of the family and assist them, if necessary, with the process
of grieving, adjustment, acceptance of the diagnosis, and decision-making.
In considering the needs of families during genetic counseling, the “func-
tional/cultural” status of the family as well as the “audiologic” status is taken
into account. Families with several generations of deaf members who con-
sider themselves to be part of the “Deaf community” may be just as inter-
ested and in need of genetic counseling as hearing parents who have just
received the diagnosis of hearing loss in a young child.
2.1 The Importance of Referral
Professionals who work with families with deaf or hard of hearing children
or adults can be responsible for informing the family about the benefits of
genetic counseling and can guide them in determining at what time a refer-
ral may be appropriate. The urgency for genetic counseling is influenced by
many factors, including the emotional adjustment of the family, the pres-
ence and seriousness of additional medical complications and the repro-
ductive concerns, if any, of the family. It is just as important for professionals
to refer families in which there is only an isolated case of hearing loss as it
is to refer those families that have many affected members.
A deaf child with a negative medical history, a normal physical exami-
nation, and no family history of hearing loss, is likely to have a genetic eti-
ology of deafness (Keats and Berlin, Chapter 1). Definitive information
about the exact genetic cause of hearing loss is often possible using genetic
screening and testing methods that have recently become available. Eval-
uation by a clinical geneticist, in addition to genetic testing, can rule out the
presence of a genetic syndrome. The family can be provided with specific
information about inheritance and recurrence risks and can be given access
to a number of research protocols or clinical tests available for confirming
a diagnosis of hereditary deafness. The genetic counselor can also discuss
with the family specific misconceptions they may hold regarding the cause
of hearing loss. This type of discussion is often helpful in alleviating the guilt
parents may feel regarding hearing loss in a child. It can also assist the
parents in acceptance of the hearing loss, and help them to move on with
their lives so that they can provide support and advocate for the educa-
tional and social needs of their child.
Referrals for genetic counseling should also be considered for adults with
hearing loss. Deaf and hard of hearing adults can benefit greatly from the
genetic counseling process (Arnos et al. 1992). As individuals reach the
age at which they consider their reproductive options, many become very
curious about the cause of their hearing loss and the chances of passing that
condition to their children. Genetic counseling is beneficial to adults who
have progressive types of hearing loss, or who develop later-onset hearing
loss, as well as to those individuals who were born deaf and often view their
deafness as a cultural difference rather than a disability.
