Talk:Sensory - Hearing Abnormalities

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2010

Ringing ears: the neuroscience of tinnitus

J Neurosci. 2010 Nov 10;30(45):14972-9.

Roberts LE, Eggermont JJ, Caspary DM, Shore SE, Melcher JR, Kaltenbach JA.

Department of Psychology, Neuroscience, and Behaviour, McMaster University, Hamilton, Ontario L8S 4K1, Canada. roberts@mcmaster.ca Abstract Tinnitus is a phantom sound (ringing of the ears) that affects quality of life for millions around the world and is associated in most cases with hearing impairment. This symposium will consider evidence that deafferentation of tonotopically organized central auditory structures leads to increased neuron spontaneous firing rates and neural synchrony in the hearing loss region. This region covers the frequency spectrum of tinnitus sounds, which are optimally suppressed following exposure to band-limited noise covering the same frequencies. Cross-modal compensations in subcortical structures may contribute to tinnitus and its modulation by jaw-clenching and eye movements. Yet many older individuals with impaired hearing do not have tinnitus, possibly because age-related changes in inhibitory circuits are better preserved. A brain network involving limbic and other nonauditory regions is active in tinnitus and may be driven when spectrotemporal information conveyed by the damaged ear does not match that predicted by central auditory processing.

PMID: 21068300





Inner Ear

File:Earlabyrinthsm.jpg[images/senses/earlabyrinth.jpg Inner ear labyrinth]

common cavity, severe cochlear hypoplasia

References

Mylanus EA, Rotteveel LJ, Leeuw RL. Congenital malformation of the inner ear and pediatric cochlear implantation. Otol Neurotol. 2004 May;25(3):308-17.

(See also [#Cochlear_Implant Cochlear Implant])

Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P, Papsin BC. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006 Dec;116(12):2113-9.

Search PubMed: inner ear anomalies

Middle Ear

Middle ear abnormalities (ossicular anomalies) are rare and can be part of first arch syndrome.

Middle ear abnormalities include:

  • familial expansile osteolysis
  • malleus/incus fixation
  • absence of the long process of the incus
  • congenital fixation of stapes (stapes anchored to oval window)
  • failure of annular ligament development
  • cholesteatoma

Familial Expansile Osteolysis (FEO)

A rare congenital (autosomal dominant, 18q21.1-q22) disorder similar to Paget’s disease of bone. Osteolytic lesions occur in all bones (mainly long bones) causing medullar expansions and lead eventually to middle ear and jaw abnormalities.

Malleus/Incus Fixation

Congenital Fixation of Stapes

In this condition the stapes is anchored to oval window often by growth of bone around teh stapes (otosclerosis). Surgicallly treated by stapedectomy, where the bone and stapes is removed and replaced by a prosthesis.

Cholesteatoma

Squamous epithelium that has been trapped within the skull base during development (congenital) and also occurs in an acquired form. The presence of this abnormality leads to erosion of the bones (temporal bone, middle ear, or mastoid) in which the epithelium is embedded.

References

Daneshi A, Shafeghati Y, Karimi-Nejad MH, Khosravi A, Farhang F. Hereditary bilateral conductive hearing loss caused by total loss of ossicles: a report of familial expansile osteolysis. Otol Neurotol. 2005 Mar;26(2):237-40.

Seidman MD, Babu S. A new approach for malleus/incus fixation: no prosthesis necessary. Otol Neurotol. 2004 Sep;25(5):669-73.

Wehrs RE. Congenital absence of the long process of the incus. Laryngoscope. 1999 Feb;109(2 Pt 1):192-7.

Search PubMed: Middle ear ossicular anomalies | familial expansile osteolysis | cholesteatoma |


Congenital Deafness

The two main forms of congenital deafness are:

Conductive - disease of outer and middle ear

Sensorineural - cochlear or central auditory pathway

Outer ear Malformation

rare meatal atresia, canal narrow or not formed, part of first arch syndrome

Congenital malformations Statistics

Congenital sensorineural hereditary or acquired (see [#References recent reviews])

Hereditary

  • recessive- severe
  • dominant- mild
  • can be associated with abnormal pigmentation
  • hair and irises

Acquired

  • rubella (German measles)
  • maternal infection during 2nd month of pregnancy
  • vaccination of young girls
  • streptomycin
  • antibiotic
  • thalidomide

Conductive Hearing Loss

  • produced by otitis media with effusion, is widespread in young children.
  • temporary blockage of outer or middle ear
  • See also: [#Conductive recent Ref] | [senseslink.htm#Hearing%20Links Senses WWW Link]

Conductive Hearing Loss

Moore DR, Hine JE, Jiang ZD, Matsuda H, Parsons CH, King AJ. Conductive hearing loss produces a reversible binaural hearing impairment. J Neurosci. 1999 Oct 1;19(19):8704-11. (J Neuroscience Link)

The authors of the above paper tested ferrets by long-term plugging of ear canal and found:

  1. Repeated testing during the 22 months after unplugging revealed a gradual return to normal levels of unmasking.
  2. Results show that a unilateral conductive hearing loss, in either infancy or adulthood, impairs binaural hearing both during and after the hearing loss.
  3. Show scant evidence for adaptation to the plug and demonstrate a recovery from the impairment that occurs over a period of several months after restoration of normal peripheral function.

Neonatal Hearing Screening

State Wide Infant Screening Hearing Program (SWISH) A newborn hearing testing program using an automated auditory response technology. Program was introduced in NSW Australia in 2002 across 17 area health service coordinators.

Automated Auditory Brainstem Response (AABR) - uses a stimulus which is delivered through earphones and detected by scalp electrodes. The test takes between 8 to 20 minutes and has a sensitivity 96-99%.

Puig T, Municio A, Meda C. Universal neonatal hearing screening versus selective screening as part of the management of childhood deafness. Cochrane Database Syst Rev. 2005 Apr 18;(2):CD003731.

(More? [../Child/neonatalscreening.htm#Hearing Child Notes - Neonatal Hearing Screening | ][../Child/neonatalscreening.htm Child Notes - Neonatal Screening])

Links: NSW Statewide Infant Screening - Hearing Program What is SWISH? | American Speech-Language-Hearing Association - Audiological Assessment of Children Birth to 5 Years of Age: 2004 (PDF Format)

Otitis Media

Otitis media (ear infection or "glue ear") is not an abnormality, but a very common developmental problem associated with fluid in the middle ear and can ooccur with or without accompanied signs and symptoms of ear infection. Prolonged or repeated occurance can lead to developmental delay in learning, speech and even damage to the middle ear structures.

Otitis media woth effusion (OME) is defined as middle ear effusion without signs or symptoms of an acute infection.

A recent [#CochraneOME Cochrane study] has shown that between the ages of one and three years it has a prevalence of 10% to 30% and a cumulative incidence of 80% at the age of four years.

Lous J, Burton MJ, Felding JU, Ovesen T, Rovers MM, Williamson I. Grommets (ventilation tubes) for hearing loss associated with otitis media with effusion in children. Cochrane Database Syst Rev. 2005 Jan 25;(1):CD001801.

Links: NIH National Institute on Deafness and Other Communication Disorders - Otitis Media | American Academy of Family Physicians - Otitis Media | Medline Plus - Otitis Media |

Cochlear Implant

Moller AR. Physiological basis for cochlear and auditory brainstem implants. Adv Otorhinolaryngol. 2006;64:206-23.

Kral A, Tillein J. Brain plasticity under cochlear implant stimulation. Adv Otorhinolaryngol. 2006;64:89-108.

Geers AE. Factors influencing spoken language outcomes in children following early cochlear implantation. Adv Otorhinolaryngol. 2006;64:50-65.

Das S, Buchman CA. Bilateral cochlear implantation: current concepts. Curr Opin Otolaryngol Head Neck Surg. 2005 Oct;13(5):290-3.

Search PubMed: Cochlear Implant

Human Genes

There are chromosomal abnormalities, such as trisomy 21 (Down Syndrome) that are commonly associated with hearing disorders associated with outer, middle and inner ear defects.

The following table lists only a few of the growing number of known genes associated with hearing loss.


Symbol Description Position
DFN1 deafness, X-linked 1, progressive Xq22
DFN2 deafness, X-linked 2, perceptive, congenital Xq22
DFN4 deafness, X-linked 4, congenital sensorineural Xp21.2
DFNB9 deafness, autosomal recessive 9 2p23-p22
DIAPH1 diaphanous (Drosophila, homolog) 1 5q31
GJB2 gap junction protein, beta 2, 26kD (connexin 26) 13q11-q12
MYO7A myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) 11q13.5
POU4F3 POU domain, class 4, transcription factor 3 5q31

 

References

Recent Reviews Abnormal Development

  • Zim SA. Microtia reconstruction: an update. Curr Opin Otolaryngol Head Neck Surg. 2003 Aug;11(4):275-81.
  •  Webster WS. [See Related Articles ] Teratogen update: congenital rubella. Teratology. 1998 Jul;58(1):13-23. Review.
  • Yates JA, et al. [See Related Articles] Isolated congenital internal auditory canal atresia with normal facial nerve function. Int J Pediatr Otorhinolaryngol. 1997 Jul 18;41(1):1-8. Review.
  • Lambert PR, et al. [See Related Articles] Congenital malformations of the external auditory canal. Otolaryngol Clin North Am. 1996 Oct;29(5):741-60. Review. PMID: 8893214; UI: 97048378.
  • Lin AE, et al.  [See Related Articles] Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet. 1995 Mar 13;56(1):42-59. Review. MID: 7747785; UI: 95266633.
  • Strasnick B, et al  [See Related Articles] Teratogenic hearing loss. J Am Acad Audiol. 1995 Jan;6(1):28-38. Review. PMID: 7696676; UI: 95210704.
  • Kossowska E, et al. [See Related Articles] Prenatal and neonatal prophylaxis in otorhinolaryngology. Int J Pediatr Otorhinolaryngol. 1980 Jun;2(2):85-98. Review. PMID: 6765128; UI: 84160924.
  • Gottlieb G. [See Related Articles] Conceptions of prenatal development: behavioral embryology. Psychol Rev. 1976 May;83(3):215-34. Review. No abstract available.PMID: 188059; UI: 77079452.
  • Holme RH, Steel KP Genes involved in deafness. Curr Opin Genet Dev 1999 Jun;9(3):309-314
    • "Remarkable progress has been made over the past few years in the field of hereditary deafness. To date, mutations in at least 35 genes are known to cause hearing loss. We are now beginning to understand the function of many of these genes, which affect diverse aspects of ear development and function."

Articles

Rowe TM, Rizzi M, Hirose K, Peters GA, Sen GC. A role of the double-stranded RNA-binding protein PACT in mouse ear development and hearing. Proc Natl Acad Sci U S A. 2006 Mar 29; [Epub ahead of print]

List of references from a 1999 search [../Refer/senses/ear_rev.htm Ear Development Reviews] | [../Refer/senses/select.htm Selected Research Articles and Reviews]

WWW Links

Australian Newborn hearing screening program (about 1 in 500 babies are born with a hearing loss Factsheet)

Western Australian pamphlet PDF: Your Newborn Baby Hearing Test

Medline Plus Ear Disorders

New Zealand National Screening Unit - Newborn Hearing Screening

First 100 cochlear implant search Aug 2010

1: Schwab B, Durisin M, Kontorinis G. Investigation of Balance Function Using Dynamic Posturography under Electrical-Acoustic Stimulation in Cochlear Implant Recipients. Int J Otolaryngol. 2010;2010:978594. Epub 2010 Jun 28. PubMed PMID: 20671908; PubMed Central PMCID: PMC2910489.


2: Kaplan DM, Puterman M. Pediatric cochlear implants in prelingual deafness: medium and long-term outcomes. Isr Med Assoc J. 2010 Feb;12(2):107-9. PubMed PMID: 20550036.


3: Migirov L, Borisovsky G, Carmel E, Wolf M, Kronenberg J. Integration of cochlear-implanted children into the general Israeli community. Isr Med Assoc J. 2010 Feb;12(2):97-9. PubMed PMID: 20550033.


4: Social Security Administration. Revised medical criteria for evaluating hearing loss. Final rules. Fed Regist. 2010 Jun 2;75(105):30693-704. PubMed PMID: 20518150.


5: Tan JH, Yeh BI, Seet CS. Deafness due to haemorrhagic labyrinthitis and a review of relapses in Streptococcus suis meningitis. Singapore Med J. 2010 Feb;51(2):e30-3. Review. PubMed PMID: 20358139.


6: Aronoff JM, Yoon YS, Freed DJ, Vermiglio AJ, Pal I, Soli SD. The use of interaural time and level difference cues by bilateral cochlear implant users. J Acoust Soc Am. 2010 Mar;127(3):EL87-92. PubMed PMID: 20329812; PubMed Central PMCID: PMC2833183.


7: Ostergaard E SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria. 2009 May 26. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sucla2-def PubMed PMID: 20301762.


8: Tranebjaerg L, Barrett T, Rendtorff ND WFS1-Related Disorders. 2009 Feb 24 [updated 2009 Jun 2]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=wfs PubMed PMID: 20301750.


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10: Kantarci S, Donnai D, Noonan KM, Pober BR Donnai-Barrow Syndrome. 2008 Aug 28. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=donnai PubMed PMID: 20301732.


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12: Smith RJH, Van Camp G Pendred Syndrome/DFNB4. 1998 Sep 28 [updated 2009 Apr 2]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pendred PubMed PMID: 20301640.


13: Smith RJH, Van Camp G Deafness and Hereditary Hearing Loss Overview. 1999 Feb 14 [updated 2008 Dec 2]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=deafness-overview PubMed PMID: 20301607.


14: Pandya A Nonsyndromic Hearing Loss and Deafness, Mitochondrial. 2004 Oct 22 [updated 2007 Jul 24]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mt-deafness PubMed PMID: 20301595.


15: Tranebjaerg L, Samson RA, Green GE Jervell and Lange-Nielsen Syndrome. 2002 Jul 29 [updated 2010 Feb 23]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=jln PubMed PMID: 20301579.


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17: Sims KB NDP-Related Retinopathies. 1999 Jul 30 [updated 2009 Jul 23]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=norrie PubMed PMID: 20301506.


18: Wolf B Biotinidase Deficiency. 2000 Mar 24 [updated 2008 Sep 25]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=biotin PubMed PMID: 20301497.


19: Smith RJH, Van Camp G Nonsyndromic Hearing Loss and Deafness, DFNB1. 1998 Sep 28 [updated 2008 Jul 11]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dfnb1 PubMed PMID: 20301449.


20: Keats BJB, Lentz J Usher Syndrome Type I. 1999 Dec 10 [updated 2010 Jun 29]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=usher1 PubMed PMID: 20301442.


21: Smith RJH, Gurrola II JG, Kelley PM OTOF-Related Deafness. 2008 Feb 29. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dfnb9 PubMed PMID: 20301429.


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23: Smith RJH, Hildebrand M DFNA2 Nonsyndromic Hearing Loss. 2008 Apr 4. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dfna2 PubMed PMID: 20301388.


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51: Gupta SS, Maheshwari SR, Kirtane MV, Shrivastav N. Pictorial review of MRI/CT Scan in congenital temporal bone anomalies, in patients for cochlear implant. Indian J Radiol Imaging. 2009 Apr-Jun;19(2):99-106. PubMed PMID: 19881062; PubMed Central PMCID: PMC2765183.


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