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Researchers Discover Most Common Cause of Genetic Hearing Loss

For Release: March 1, 1999, 5 p.m. (ET)

Below is a highlight of a policy published in the March issue of Pediatrics, the peer-reviewed, scientific journal of the American Academy of Pediatrics (AAP).

CHICAGO - Administering a simple blood test to newborns with hearing loss will help physicians identify those children who developed the condition genetically, according to a groundbreaking study published in the March issue of Pediatrics, the journal of the American Academy of Pediatrics (AAP).

The study found that approximately half of all inherited hearing loss is a result of mutations in the connexin 26 (Cx26) gene.

According to the study, testing has a number of benefits, including identifying the Cx26 mutation, and providing information to professionals caring for children with hearing loss. In addition, understanding that a Cx26 mutation is responsible for a particular case may reduce the extent of additional tests and subsequently reduce medical costs.

These findings also will help physicians determine which children may require the most intensive communication therapy and help prioritize follow-up on newborn hearing screening programs.

About one child in 500 is born with some degree of hearing loss, the study says. Fifty percent of these cases have genetic roots, and about 40 percent of these are linked to hearing parents who carry the recessive gene (Cx26).

The authors, from Boys Town National Research Hospital, Creighton University Medical School, and the University of Nebraska Medical Center, all in Omaha, Nebraska, studied 46 children from 24 families with Cx26-associated hearing loss. None of the children’s parents had significant hearing loss.

While the authors emphasize that more research needs to be done in this area, they recommend that all newborns identified with hearing loss of unknown cause should be offered Cx26 testing in conjunction with appropriate genetic counseling and intensive audiologic follow-up.

EDITOR’S NOTE: In February 1999, the AAP recommended that universal hearing screening programs be developed for newborns and infants. The AAP also endorses efforts to detect hearing loss in infants before 3 months of age, with appropriate intervention no later than 6 months of age.

EDITOR’S NOTE: This study was published in the peer-reviewed, scientific journal of the American Academy of Pediatrics, but does not necessarily reflect the policies or opinions of the Academy. The American Academy of Pediatrics is an organization of 55,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated to the health, safety and well-being of infants, children, adolescents and young adults.

© 2002 - American Academy of Pediatrics


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