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Syndromic Sensorineural Hearing Loss Workup

  • Author: Stephanie A Moody Antonio, MD; Chief Editor: Arlen D Meyers, MD, MBA  more...
 
Updated: Jan 13, 2016
 

Laboratory Studies

See the list below:

  • 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

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  • 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

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  • 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 Associate 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, Virginia Society of Otolaryngology-Head and Neck Surgery, American Neurotology Society, American Medical Association

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, Virginia Society of Otolaryngology-Head and Neck Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

Ted L Tewfik, MD Professor of Otolaryngology-Head and Neck Surgery, Professor of Pediatric Surgery, McGill University Faculty of Medicine; Senior Staff, Montreal Children's Hospital, Montreal General Hospital, and Royal Victoria Hospital

Ted L Tewfik, MD is a member of the following medical societies: American Society of Pediatric Otolaryngology, Canadian Society of Otolaryngology-Head & Neck Surgery

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, American Head and Neck Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cerescan;RxRevu;SymbiaAllergySolutions<br/>Received income in an amount equal to or greater than $250 from: Symbia<br/>Received from Allergy Solutions, Inc for board membership; Received honoraria from RxRevu for chief medical editor; Received salary from Medvoy for founder and president; Received consulting fee from Corvectra for senior medical advisor; Received ownership interest from Cerescan for consulting; Received consulting fee from Essiahealth for advisor; Received consulting fee from Carespan for advisor; Received consulting fee from Covidien for consulting.

Additional Contributors

B Viswanatha, DO, MBBS, PhD, MS, FACS Professor of Otolaryngology (ENT), Sri Venkateshwara ENT Institute, Victoria Hospital, Bangalore Medical College and Research Institute, India

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

Disclosure: Nothing to disclose.

References
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