Syndromic Sensorineural Hearing Loss Workup

  • Author: Stephanie A Moody Antonio, MD; Chief Editor: Arlen D Meyers, MD, MBA   more...
 
Updated: Apr 12, 2012
 

Laboratory Studies

  • A routine series of laboratory tests is not recommended in the evaluation of patients with hearing impairment. A rational assessment of the cost-benefit ratio and the clinician's index of suspicion dictate the selection of necessary laboratory studies to be performed for each individual patient.
  • Studies may include the following:
    • Genetic testing, including connexin 26 gene mutation testing. (Patients with syndromic features benefit from a genetic evaluation. Clinical testing for many genes associated with hearing loss is available.)
    • CBC count with differential
    • Chemistries
    • Blood sugar
    • BUN/creatinine
    • Thyroid function studies
    • Urinalysis
    • Fluorescent treponemal antibody absorption (FTA-ABS)
    • Specific immunoglobulin M (IgM) assays for toxoplasmosis, rubella, cytomegalovirus, herpes virus, and autoimmune panel, eg, erythrocyte sedimentation rate (ESR), antinuclear antibody (ANA), rheumatoid factor (RF), complement levels, Raja cell studies, Western blot to identify a serum anti-68 KD autoantibody, and circulating immune complexes
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Imaging Studies

  • CT scanning
    • CT scanning offers very high-resolution images with 1-mm slices, allowing good visualization of the anatomy of the bones, ossicles, and inner ear.
    • CT scanning may be used to identify potentially surgically reparable causes of SNHL and may also be used to identify the less dysplastic, and presumably better hearing ear when considering auditory habilitation. CT abnormalities are found in up to 30% of individuals with hearing loss and thus are an important component of the evaluation. For example, enlarged vestibular aqueduct and Mondini malformation are common findings in Pendred syndrome.
  • MRI: High soft tissue contrast makes MRI ideal for evaluation of the inner ear, internal auditory canal, and cerebellopontine angle.
  • Renal ultrasonography: Consider renal ultrasonography when abnormalities are suspected.
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Other Tests

  • Valid and reliable techniques are available to determine the presence, degree, and nature of hearing impairment in children as early as the first 24 hours of life. Such techniques include the following:
    • Auditory brainstem response
    • Audiometry
    • Tympanometry
    • Acoustic reflex threshold measurement
    • Otoacoustic emissions (OAE)
  • Electrocardiography: Consider ECG as a means to reveal cardiac conduction anomalies when an appropriate degree of clinical suspicion is present.
  • Electrooculography can identify retinitis pigmentosa earlier than a physical examination.
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Contributor Information and Disclosures
Author

Stephanie A Moody Antonio, MD  Assistant Professor, Department of Otolaryngology-Head and Neck Surgery, Eastern Virginia Medical School

Stephanie A Moody Antonio, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Medical Association, American Neurotology Society, and Virginia Society of Otolaryngology-Head and Neck Surgery

Disclosure: Nothing to disclose.

Coauthor(s)

Barry Strasnick, MD, FACS  Chairman, Professor, Department of Otolaryngology-Head and Neck Surgery, Eastern Virginia Medical School

Barry Strasnick, MD, FACS is a member of the following medical societies: Alpha Omega Alpha, American Academy of Facial Plastic and Reconstructive Surgery, American Academy of Otolaryngology-Head and Neck Surgery, American Auditory Society, American College of Surgeons, American Medical Association, American Tinnitus Association, Ear Foundation Alumni Society, Norfolk Academy of Medicine, North American Skull Base Society, Society of University Otolaryngologists-Head and Neck Surgeons, Vestibular Disorders Association, and Virginia Society of Otolaryngology-Head and Neck Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

B Viswanatha, MBBS, MS, DLO  Professor of Otolaryngology (ENT), Chief of ENT III Unit, Sri Venkateshwara ENT Institute, Victoria Hospital, Bangalore Medical College and Research Institute; PG and UG Examiner, Manipal University, India and Annamalai University, India

B Viswanatha, MBBS, MS, DLO is a member of the following medical societies: Association of Otolaryngologists of India, Indian Medical Association, and Indian Society of Otology

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Gerard J Gianoli, MD  Clinical Associate Professor, Department of Otolaryngology-Head and Neck Surgery, Tulane University School of Medicine; Vice President, The Ear and Balance Institute; Chief Executive Officer, Ponchartrain Surgery Center

Gerard J Gianoli, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American College of Surgeons, American Neurotology Society, American Otological Society, Society of University Otolaryngologists-Head and Neck Surgeons, and Triological Society

Disclosure: Vesticon, Inc. None Board membership

Christopher L Slack, MD  Private Practice in Otolaryngology and Facial Plastic Surgery, Associated Coastal ENT; Medical Director, Treasure Coast Sleep Disorders

Christopher L Slack, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Facial Plastic and Reconstructive Surgery, American Academy of Otolaryngology-Head and Neck Surgery, and American Medical Association

Disclosure: Nothing to disclose.

Chief Editor

Arlen D Meyers, MD, MBA  Professor of Otolaryngology, Dentistry, and Engineering, University of Colorado School of Medicine

Arlen D Meyers, MD, MBA is a member of the following medical societies: American Academy of Facial Plastic and Reconstructive Surgery, American Academy of Otolaryngology-Head and Neck Surgery, and American Head and Neck Society

Disclosure: Covidien Corp Consulting fee Consulting; US Tobacco Corporation Unrestricted gift Unknown; Axis Three Corporation Ownership interest Consulting; Omni Biosciences Ownership interest Consulting; Sentegra Ownership interest Board membership; Medvoy Ownership interest Management position; Cerescan Imaging Consulting; Headwatersmb Consulting fee Consulting; Venturequest Royalty Consulting

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