Syndromic Sensorineural Hearing Loss Workup
- Author: Stephanie A Moody Antonio, MD; Chief Editor: Arlen D Meyers, MD, MBA more...
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
- Blood sugar
- Thyroid function studies
- 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
See the list below:
- 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.
See the list below:
- 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
- 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.
Eisen MD, Ryugo DK. Hearing molecules: contributions from genetic deafness. Cell Mol Life Sci. 2007 Mar. 64(5):566-80. [Medline].
Mehra S, Eavey RD, Keamy DG Jr. The epidemiology of hearing impairment in the United States: newborns, children, and adolescents. Otolaryngol Head Neck Surg. 2009 Apr. 140(4):461-72. [Medline].
Morzaria S, Westerberg BD, Kozak FK. Systematic review of the etiology of bilateral sensorineural hearing loss in children. Int J Pediatr Otorhinolaryngol. 2004 Sep. 68(9):1193-8. [Medline].
Saunders JE, Vaz S, Greinwald JH, Lai J, Morin L, Mojica K. Prevalence and etiology of hearing loss in rural Nicaraguan children. Laryngoscope. 2007 Mar. 117(3):387-98. [Medline].
Huang BY, Zdanski C, Castillo M. Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes. AJNR Am J Neuroradiol. 2012 Mar. 33(3):399-406. [Medline].
Information on Hearing Loss - Ten Syndromes Most Commonly Associated With Hearing Impairment. boystownhospital.org. Available at http://boystownhospital.org/Hearing/info/genetics/syndromes/ten.asp. Accessed: April 14, 2009.
Song J, Feng Y, Acke FR, Coucke P, Vleminckx K, Dhooge IJ. Hearing loss in Waardenburg syndrome: a systematic review. Clin Genet. 2015 Jun 22. [Medline].
Usher Syndrome. Genetics Home Reference. Available at http://ghr.nlm.nih.gov/condition=ushersyndrome. Accessed: April 14, 2009.
Pendred Syndrome. Genetics Home Reference. Available at http://ghr.nlm.nih.gov/condition=pendredsyndrome. Accessed: April 14, 2009.
Jervell and Lange-Nielson Syndrome. Genetics Home Reference. Available at http://ghr.nlm.nih.gov/condition=jervellandlangenielsensyndrome. Accessed: April 14, 2009.
Cockayne Syndrome. Genetics Home Reference. Available at http://ghr.nlm.nih.gov/condition=cockaynesyndrome.
Alstrom Disease. Genetics Home Reference. Available at http://ghr.nlm.nih.gov/condition=alstromsyndrome. Accessed: April 14, 2009.
Nadol JB Jr, Marshall JD, Bronson RT. Histopathology of the human inner ear in Alstrom's syndrome. Audiol Neurootol. 2015. 20 (4):267-72. [Medline].
Merchant SN, Burgess BJ, Adams JC, Kashtan CE, Gregory MC, Santi PA. Temporal bone histopathology in alport syndrome. Laryngoscope. 2004 Sep. 114(9):1609-18. [Medline].
Norrie Disease. Genetics Home Reference. Available at http://ghr.nlm.nih.gov/condition=norriedisease. Accessed: April 14, 2009.
FDA approves first implantable hearing device for adults with a certain kind of hearing loss. US Food and Drug Administration. March 20, 2014. Available at http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm389860.htm.
Alport Syndrome. Genetics Home Reference. Available at http://ghr.nlm.nih.gov/condition=alportsyndrome. Accessed: April 14, 2009.
Alstrom CH. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous disease. Acta Psychiatrica Scandinavica. 1959. 34:1-35.
Cockayne E. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936. 2:1.
Jervell A, Lange-Nielsen J. Congenital deaf-mutism functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J. 1957. 54:9-68.
National Newborn Screening Status ReportUpdated 03/11/09. Available at http://genes-r-us.uthscsa.edu/nbsdisorders.pdf.
Ouyang SM, Yan D, Yuan HJ, et al. The genetic basis of non-syndromic hearing loss among Chinese. Journal Human Genetics. 2009. 54(3):131-40.
Refsum S. Heredopathia actica polyneuritis formis. Acta Psychiatrica Scandinavica. 1946. 38:301-303.
Strome M. Down's syndrome: a modern otorhinolaryngological perspective. Laryngology. 1959. 69:54-89.
Usher CH. On the inheritance of retinitis pigmentosa, with notes of a case. London Ophthalmol Hosp Nep. 1914. 19:130-136.
Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Gen. 1951. 3:195-253.