Diagnosis routine and approach in genetic sensorineural hearing loss

To develop a screening in order to determine the more common syndromic and non-syndromic genetic SNHL, considering epidemiological data, information and the development of new technologies; clinical implications and bioethical issues.

We reviewed the literature in order to develop a screening that includes: history, patterns of inheritance, physical evaluation, laboratory tests, image studies, multidisciplinary approaches and genetic tests.

The epidemiologic data estimates that at least 50% of prelingual HL can be determined by genetic alterations. Medical and family histories are extremely important to help one achieve a genetic-based SNHL diagnosis, and help determine inheritance patterns. Through a high suspicion index, syndromic cases can be diagnosed or excluded, with a careful evaluation and molecular basis tests used to better determine the hearing loss. Genetic tests and mitochondrial inheritance should be considered in any family with many affected individuals, except when the hearing loss was clearly transmitted by a male. In cases of non-syndromic SNHL, GJB2 mutation analysis must be proposed.