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Syndromic Sensorineural Hearing Loss

Practice Essentials

Sensorineural hearing loss (SNHL) has many different presentations, ranging in severity from mild to profound, including low- and high-pitch patterns. Genetic hearing loss may appear as an isolated finding or as part of a syndrome. About 70% of genetic hearing loss is nonsyndromic, and about 30% is syndromic.

Signs and symptoms

The following histories should be obtained:

Gestational

Perinatal

Postnatal

Family

Clinical findings suggestive of syndromes associated with hearing loss include the following:

Ear examination findings

Eye examination findings

Integumentary examination findings

Cardiac findings

Renal findings

Dental findings

Endocrine/metabolic findings

Chromosomal abnormalities

Neurologic abnormalities

Skeletal examination findings

Craniofacial abnormalities

Diagnosis

A routine series of laboratory tests is not recommended. Studies, selected on an individualized basis, may include the following:

Genetic testing

Complete blood count count with differential

Serum chemistries

Blood sugar

Blood urea nitrogen and creatinine

Thyroid function studies

Urinalysis

Fluorescent treponemal antibody absorption (FTA-ABS)

Specific immunoglobulin M (IgM) assays

Autoimmune panel

Imaging studies to be considered include the following:

Computed tomography

Magnetic resonance imaging

Renal ultrasonography

Other tests that may be helpful include the following:

Techniques for identifying and assessing hearing impairment (eg, audiometry and tympanometry)

Electrocardiography

Electrooculography

Treatment

Medical care may include the following:

Treatment of any middle ear disease

Amplification

Assistive listening devices and personal systems

Surgical care may include the following:

Surgical management of external and middle ear deformities

Cochlear implantation

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