Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testing.
Specific investigations of pediatric hearing loss are based on the history, physical examination, and age of the patient. The radiographic investigation of choice is high-resolution CT of the temporal bone. Patients with a dilated vestibular aqueduct need to be investigated further for Pendred syndrome. Screening for mutations in connexin 26 has become increasingly available in many centers and should be performed in all cases of nonsyndromic hearing loss. It is important to understand the implications and pitfalls of genetic testing. Genetic counseling is necessary.
Hone
Stephen W
SW
Department of Pediatric Otolaryngology/HNS, University of Iowa Hospitals and Clinics, 21201 PFP, 200 Hawkins Drive, Iowa City, IA 52242, USA.
Smith
Richard J H
RJ
D002648:Child; D003582:Cytogenetics / Q000379:methods*; D004562:Electrocardiography; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007075:Immunoglobulin M / Q000276:immunology*; D007621:Karyotyping; D013701:Temporal Bone / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed
D007075:Immunoglobulin M