Genetic counseling for the hearing impaired

Abstract

Genetic counseling has many goals and perhaps no single group can profit more from counseling than the hearing impaired and their parents. Genetic factors account for approximately one-half of all cases of profound hearing loss, but there are so many different types of hereditary deafness that even when both parents are affected, their children may have normal hearing. If an accurate genetic diagnosis is made, counseling can prevent the tragedy of a second affected child and can sometimes lead to specific remediation. Perhaps the most significant effects of genetic counseling, however, are psychological in nature.

Even among physicians the belief that families with hereditary diseases are somehow ‘tainted’ is unfortunately still far too prevalent. The recognition that the legacy of abnormal genes is a burden all society bears, that everyone possesses several potentially deleterious mutants, and in particular, that one in eight carries a recessive gene for deafness can dispel unfounded parental feelings of confusion, shame and guilt.

If the need for genetic counseling is to be met, efficient methods will be required for the recognition of hereditary deafness and the delivery of counseling services. Computer assisted pedigree linkage systems may provide a method whereby these goals can be achieved.

Key Words:

• Patterns of inheritance in man
• Low-frequency hearing loss
• Congenital fixation of the stapes footplate
• Renal tubular acidosis with deafness
• Prenatal diagnosis of deafness