Walter E. Nance, M.D., Ph.D., professor of human genetics in Virginia Commonwealth University's School of Medicine, and Cynthia C. Morton, Ph.D., a professor of human genetics at the Harvard Medical School, have summarized four important criteria to be considered for screening programs throughout the country for newborn hearing defects. These include the prompt confirmation of abnormal results from screening tests; adoption of an etiologic focus to determine the cause of the deafness; initiation of molecular genetic testing for all newborns; and better recognition of infants at risk for late-onset hearing loss occurring prior to speech and language development.
Molecular genetic testing of blood spots from all newborn infants for the presence of the CMV virus, connexin deafness, Pendred syndrome and mitochondrial mutations in the 12S rRNA gene would allow the immediate diagnosis of the commonest forms of genetic and environmental deafness that are expressed at birth, according to the article, published in the May 18 issue of the New England Journal of Medicine. In addition, these tests would allow for the identification of infants at risk for the commonest genetic, environmental and preventable causes of delayed onset prelingual deafness.
"If hearing loss is detected at birth and appropriate intervention is promptly initiated the educational outcome for deaf infants can be dramatically improved," said Nance, who is the corresponding author of the article. "Although newborn hearing screening programs have improved the lives of infants throughout the world, our report suggests several specific ways in which these programs can be improved, including the screening of all newborns for a
Contact: Sathya Achia-Abraham
Virginia Commonwealth University