Molecular genetic testing should be part of the initial evaluation of children with sensorineural hearing loss (SNHL).
Hearing impairment is the most common sensory deficit in children, and SNHL is the most common form of congenital hearing impairment. It is also a significant health care problem. More than 40 000 children are born in the United States with significant hearing impairment, including about 4000 who are profoundly deaf. The incidence is estimated at about 1 in every 1000 live births.1 Therefore, the otolaryngologist will frequently be challenged to determine the appropriate diagnostic regimen for this subset of children, a difficult and controversial procedure.
Greinwald JH, Hartnick CJ. The Evaluation of Children With Sensorineural Hearing Loss. Arch Otolaryngol Head Neck Surg. 2002;128(1):84-87. doi:10.1001/archotol.128.1.84