Hearing Impairment Differential Diagnoses

  • Author: Rahul K Shah; Chief Editor: Glenn C Isaacson, MD, FACS, FAAP   more...
 
Updated: Jul 25, 2011
 
 

Diagnostic Considerations

No differential diagnosis for confirmed deafness is known, although differential diagnoses are generally considered in determining the etiology of hearing impairment. Alternatively, the differential diagnosis for children who present with language, behavioral, and school difficulties should include hearing loss.

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Contributor Information and Disclosures
Author

Rahul K Shah  MD, FACS, FAAP, Associate Professor of Otolaryngology and Pediatrics, Medical Director, Peri-operative Services, Children's National Medical Center, George Washington University School of Medicine and Health Sciences; Attending Physician, Department of Otolaryngology, Children's National Medical Center

Rahul K Shah is a member of the following medical societies: Alpha Omega Alpha, American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American College of Medical Quality, American College of Physician Executives, American College of Surgeons, Massachusetts Medical Society, Phi Beta Kappa, and Triological Society

Disclosure: Nothing to disclose.

Coauthor(s)

Michael Lotke, MD  Pediatric Clinical Educator, Mount Sinai Hospital–Chicago/Sinai Children's Hospital; Assistant Professor, Department of Pediatrics, Rosalind Franklin University of Medicine and Science

Michael Lotke, MD is a member of the following medical societies: American Academy of Pediatrics and American Public Health Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Orval Brown, MD  Director of Otolaryngology Clinic, Professor, Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern Medical Center at Dallas

Orval Brown, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American Bronchoesophagological Association, American College of Surgeons, American Medical Association, American Society of Pediatric Otolaryngology, Society for Ear, Nose and Throat Advances in Children, and Society of University Otolaryngologists-Head and Neck Surgeons

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

John E McClay, MD  Associate Professor of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Dallas, University of Texas Southwestern Medical School

John E McClay, MD is a member of the following medical societies: American Academy of Otolaryngic Allergy, American Academy of Otolaryngology-Head and Neck Surgery, American College of Surgeons, and American Medical Association

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Glenn C Isaacson, MD, FACS, FAAP  Professor of Otolaryngology-Head and Neck Surgery and Pediatrics, Temple University School of Medicine

Glenn C Isaacson, MD, FACS, FAAP is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American Bronchoesophagological Association, American College of Surgeons, American Laryngological Rhinological and Otological Society, American Society of Pediatric Otolaryngology, and Society of University Otolaryngologists-Head and Neck Surgeons

Disclosure: Covidien Honoraria Consulting

References

  1. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16-31. [Medline].

  2. Erenberg A, Lemons J, Sia C, Trunkel D, Ziring P. Newborn and infant hearing loss: detection and intervention.American Academy of Pediatrics. Task Force on Newborn and Infant Hearing, 1998- 1999. Pediatrics. Feb 1999;103(2):527-30. [Medline].

  3. Johnson JL, White KR, Widen JE, et al. A multicenter evaluation of how many infants with permanent hearing loss pass a two-stage otoacoustic emissions/automated auditory brainstem response newborn hearing screening protocol. Pediatrics. Sep 2005;116(3):663-72. [Medline].

  4. Katbamna B, Crumpton T, Patel DR. Hearing impairment in children. Pediatr Clin North Am. Oct 2008;55(5):1175-88, ix. [Medline].

  5. Kenna MA. Neonatal hearing screening. Pediatr Clin North Am. Apr 2003;50(2):301-13. [Medline].

  6. Kerschner JE. Neonatal hearing screening: to do or not to do. Pediatr Clin North Am. Jun 2004;51(3):725-36, x. [Medline].

  7. Berg AL, Spitzer JB, Towers HM, Bartosiewicz C, Diamond BE. Newborn hearing screening in the NICU: profile of failed auditory brainstem response/passed otoacoustic emission. Pediatrics. Oct 2005;116(4):933-8. [Medline].

  8. Cohn ES, Kelley PM, Fowler TW, et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics. Mar 1999;103(3):546-50. [Medline].

  9. Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Association, and Directors of Speech and Hearing Programs in State Health and Welfare Agencies. Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Pediatrics. Oct 2000;106(4):798-817. [Medline].

  10. American Academy of Pediatrics, Joint Committee on Infant Hearing. Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs. Pediatrics. Oct 2007;120(4):898-921. [Medline].

  11. US Preventive Services Task Force. Universal screening for hearing loss in newborns: US Preventive Services Task Force recommendation statement. Pediatrics. Jul 2008;122(1):143-8. [Medline].

  12. Nelson HD, Bougatsos C, Nygren P. Universal newborn hearing screening: systematic review to update the 2001 US Preventive Services Task Force Recommendation. Pediatrics. Jul 2008;122(1):e266-76. [Medline].

  13. Kennedy CR, McCann DC, Campbell MJ, et al. Language ability after early detection of permanent childhood hearing impairment. N Engl J Med. May 18 2006;354(20):2131-41. [Medline].

  14. Roizen NJ. Etiology of hearing loss in children. Nongenetic causes. Pediatr Clin North Am. Feb 1999;46(1):49-64, x. [Medline].

  15. Shargorodsky J, Curhan SG, Curhan GC, Eavey R. Change in prevalence of hearing loss in US adolescents. JAMA. Aug 18 2010;304(7):772-8. [Medline].

  16. McGee J, Walsh EJ. Cochlear Transduction and the Molecular Basis of Auditory Pathology. In: Cummings Otolaryngology: Head & Neck Surgery. 5th ed. St. Louis, Mo: Mosby; 2010:Chapter 146.

  17. Harrison M, Roush J, Wallace J. Trends in age of identification and intervention in infants with hearing loss. Ear Hear. Feb 2003;24(1):89-95. [Medline].

  18. Hildebrand MS, Husein M, Smith RJH. Cochlear Genetic Sensorineural Hearing Loss. In: Cummings Otolaryngology: Head & Neck Surgery. 5th ed. St. Louis, Mo: Mosby; 2010:Chapter 147.

  19. Marlin S, Garabédian EN, Roger G, et al. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg. Aug 2001;127(8):927-33. [Medline].

  20. Tashiro K, Konishi H, Sano E, Nabeshi H, Yamauchi E, Taniguchi H. Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein. J Biol Chem. Aug 25 2006;281(34):24612-22. [Medline].

  21. Modamio-Hoybjor S, Mencia A, Goodyear R, et al. A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. Am J Hum Genet. Jun 2007;80(6):1076-89. [Medline]. [Full Text].

  22. Bondurand N, Pingault V, Goerich DE, et al. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet. Aug 12 2000;9(13):1907-17. [Medline].

  23. Richardson SO. The child with "delayed speech". Contemp Pediatr. 1992;9(9):55.

  24. Smith RJ, Hone S. Genetic screening for deafness. Pediatr Clin North Am. Apr 2003;50(2):315-29. [Medline].

  25. Genetic Evaluation of Congenital Hearing Loss Expert Panel. Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med. May-Jun 2002;4(3):162-71. [Medline].

  26. Choung YH, Moon SK, Park HJ. Functional study of GJB2 in hereditary hearing loss. Laryngoscope. Sep 2002;112(9):1667-71. [Medline].

  27. Gasparini P, Rabionet R, Barbujani G, et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet. Jan 2000;8(1):19-23. [Medline].

  28. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA. Jun 16 1999;281(23):2211-6. [Medline].

  29. Parry DA, Booth T, Roland PS. Advantages of magnetic resonance imaging over computed tomography in preoperative evaluation of pediatric cochlear implant candidates. Otol Neurotol. Sep 2005;26(5):976-82. [Medline].

  30. [Guideline] Joint Committee on Infant Hearing. Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs. Pediatrics. Oct 2007;120(4):898-921. [Medline].

  31. Berlin CI, Morlet T, Hood LJ. Auditory neuropathy/dyssynchrony: its diagnosis and management. Pediatr Clin North Am. Apr 2003;50(2):331-40, vii-viii. [Medline].

  32. Brookhouser PE, Beauchaine KL, Osberger MJ. Management of the child with sensorineural hearing loss. Medical, surgical, hearing aids, cochlear implants. Pediatr Clin North Am. Feb 1999;46(1):121-41. [Medline].

  33. American Academy of Pediatrics Joint Committee on Infant Hearing. Joint Committee on Infant Hearing 1994 Position Statement. Pediatrics. Jan 1995;95(1):152-6. [Medline].

  34. Horn RM, Nozza RJ, Dolitsky JN. Audiological and medical considerations for children with cochlear implants. Am Ann Deaf. Apr 1991;136(2):82-6. [Medline].

 
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Cochlear malformations. Neural foramen on the right is absent. Right arrow indicates a rudimentary vestibule. On the left is a severe cochlear malformation (large arrow). Small arrow indicates the internal auditory canal.
Cochlear implant electrode passing through the facial recess to the scala tympani.
Table. Some Syndromes Associated with Deafness
Organ or SystemSyndromeInheritance PatternHearing LossObvious Physical Abnormalities
External earDiGeorge sequelaeSporadicCHLYes
Branchio-oto-facial syndromeADCHLYes
Townes-Brocks syndromeADSNHLYes
Miller syndromeARCHLYes
Bixler syndromeARCHLYes
CardiacColoboma, heart disease, atresia choanae, retarded growth, and ear anomalies (CHARGE) syndromeAD, AR, X linked, sporadicSNHL, mixedYes
Jervell Lange-Nielson syndromeARSNHLNo
Limb-oto-cardiac syndromeARCHLYes
RenalAlport syndromeAD, AR, X linkedSNHLYes or no
Branchio-oto-renal syndromeADSNHL, CHLYes
Kearns-Sayre syndromeSporadicSNHLYes
Epstein syndromeADSNHLNo
Barakat syndromeARSNHLNo
Mental (retardation)Noonan syndromeSporadicSNHLYes
Killian/Teschler-Nicola syndromeSporadicSNHLYes
Cockayne syndrome, type IARSNHLYes
Gustavson syndromeX linkedSNHLYes
DermatologicWaardenburg syndromeADSNHLYes
Lentigines, ECG, ocular, pulmonary, abnormal, retardation, and deafness (LEOPARD) syndromeADSNHLYes
Senter syndromeARSNHLYes
Black locks with albinism and deafness (BADS) syndromeARSNHLYes
Davenport syndromeARSNHLYes
Endocrine and/or metabolicPendred syndromeARSNHLYes or no
Johanson-Blizzard syndromeARSNHLYes
Refetoff syndromeARSNHLYes
Wolfram syndromeARSNHLYes or no
Kallmann syndromeAD, AR, X linkedSNHL, mixedYes or no
FacialGoldenhar syndromeAD, ARCHL, SNHLYes
Frontometaphyseal dysplasiaX linkedMixedYes
Escher-Hirt syndromeADCHLYes
Levy-Hollister syndromeADSNHLYes
OphthalmologicUsher syndromeARSNHLYes or no
Marshall syndromeADSNHLYes
Alström syndromeARSNHLYes
Harboyan syndromeARSNHLYes or no
Fraser syndromeARCHLYes
Jensen syndromeX linkedSNHLNo
OrthopedicKlippel-Feil sequelaeSporadicCHL, SNHLYes
Stickler syndromeADCHL, SNHL, mixedYes
Craniometaphyseal dysplasiaAD, ARCDYes
Oto-spondylo-megaepiphyseal dysplasia (OSMED) syndromeARSNHLYes
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