Sensory - Hearing Abnormalities

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Contents

Introduction

Newborn hearing test

How and why do things go wrong in development? Developing of hearing requires a complex origin, organisation, and timecourse means that abnormal development of any one system can impact upon the development of hearing. There are many different abnormalities of hearing development that can result in hearing loss and can broadly be divided into either conductive or sensorineural loss. These abnormalities can have genetic, environmental or unknown origins. In addition, abnormalities of the external ear (position and structure) is used as a clinical diagnostic tool for developmental abnormalities in other systems.


In Australia, there is now an early postnatal screening of neonatal hearing as part of a NSW State Wide Infant Screening Hearing (SWISH) Program using Automated Auditory Brainstem Response (AABR).

Hearing Links: Introduction | Science Lecture | Medicine Lecture | Inner Ear | Middle Ear | Outer Ear | Balance | Hearing - Neural Pathway | Stage 22 | Abnormalities | Neonatal Diagnosis - Hearing | Hearing test | Sensory Introduction | Placodes | Student project | Category:Hearing
Historic Embryology: 1918 Human Embryo Otic Capsule | 1918 Cochlea | 1918 Grays Anatomy | 1922 Human Auricle | Historic Disclaimer


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Some Recent Findings

  • Multicenter newborn hearing screening project[1] "From the actual point of view, the "sensitive period" for the effects of hearing impairment on speech and language development is within the first year of life. Early exposure to acoustic or electric stimulation can compensate for the acoustic deficit. A regional-based, specifically designed concept of a universal newborn hearing screening (UNHS) was started in Hamburg in the year 2002. ...Sixty-three thousand, four hundred fifty-nine out of 65,466 births were registered during the period August 2002 to July 2006, 93% were primarily screened. 3.3% failed the test and 31.3% were lost to follow-up. A total of 118 children were diagnosed with hearing loss in the follow-up."
  • Review - The etiology of otosclerosis[2] "Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is a complex genetic disease, caused by a combination of genetic and environmental factors. During the past decade, several attempts have been made to identify factors for otosclerosis."
  • Ototoxic drugs: difference in sensitivity between mice and guinea pigs.[3] "These results indicate that the mouse is not a good model for ototoxicity, which should be taken into consideration in all further investigations concerning ototoxicity-induced hearing loss."

Inner Ear Abnormalities

Large Vestibular Aqueduct Syndrome (LVAS)

Vestibular sac abnormality

This inner ear abnormality can be one of the common causes of hearing loss.


Common cavity, severe cochlear hypoplasia

Cholesteatoma

Epithelium trapped within skull base in development, erosion of bones: temporal bone, middle ear, mastoid

Mondini Dysplasia

Incomplete cochlea CT[4]

(Mondini defect, Mondini malformation) Incomplete cochlea development, thought to occur during embryonic stage of growth. A common associated form of sensory neural hearing loss not associated with any known syndrome, as well as occurring as a feature of other congenital abnormalities (Turner's syndrome). Can be identified by CT scans of the head showing the cochlea region. First described by Carlo Mondini in 1791 "The Anatomic Section of a Boy Born Deaf".[5][6]

Increased risk of developing:

  • recurrent meningitis
  • perilymphatic fistula
  • a cerebrospinal fluid (CSF) leak due to either an enlarged cochlear aqueduct or an abnormal connection between the internal auditory canal and membranous labyrinth.

Middle Ear Abnormalities

Rare and can be part of first arch syndrome.

Fixation of the middle ear ossicles Malleus, Incus and Stapes Middle ear abnormalities (ossicular anomalies) are rare and can be part of first arch syndrome.

  • 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.[7]

Malleus/Incus Fixation

Congenital absence of the long process of the incus.[8]

Congenital Fixation of Stapes

In this condition the stapes is anchored to oval window often by growth of bone around the stapes (otosclerosis). Surgicallly treated by stapedectomy, where the bone and stapes is removed and replaced by a prosthesis.[9]

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.

Persistent Stapedial Artery

Stapedial Artery

The fetal stapedial artery initially lies between the foramen of the stapes and is lost before birth. If this regression fails, a persistent stapedial artery will affect conduction through the middle ear ossicle chain.

The condition can be seen in hemifacial microsomia (14q32), a reasonably common sporadic and rare familial autosomal dominant abnormality of the first and second pharyngeal arch derivatives.[10][11]

Chronic Otitis Media

Associated with ossicular defects, the most frequent being necrosis of the long process of incus.

Outer Ear Abnormalities

Several genetic effects and syndromes can include impacts on developmental of the external ear either directly or by altering development of the skull or face. Several developmental environment effects can be indicated by changes in the relative position or appearance of the external ear at birth. (More? Abnormal Development - Fetal Alcohol Syndrome.

  • Microtia - abnormally small external ear
  • Preauricular sinus - occurs in 0.25% births, bilateral (hereditary) 25-50%, unilateral (mainly the left), duct runs inward can extend into the parotid gland, Postnatally sites for infection

Microtia

Microtia

The condition in humans of an abnormally small external ear is called "microtia".

This abnormality can generally be surgically repaired by use of rib cartilage to reconstruct the external ear.[12]

A recent study has identified a genetic mouse model for this condition with the knockout of the Pact gene.[13]

Preauricular Sinus

Preauricular sinus in ascending limb of the helix

Preauricular sinus occurs in 0.25% births, is bilateral (hereditary) in 25-50% of cases and unilateral (mainly the left). They are developmental and generally occur on the surface in anterior margin of the ascending limb of the helix, and the duct runs inward to the perichondrium of the auricular cartilage and in some cases extend into the parotid gland. Postnatally they are a site for infection.

Search PubMed: Preauricular Sinus

Links: Medline Plus - Preauricular tag or pit

Preauricular Tag

Skin tags in front of the external ear opening are common in neonates and in most cases are normal, though in some cases are indicative of other associated abnormalities.

Preauricular tag Preauricular tag

Search PubMed: Preauricular Tag

Links: Medline Plus - Preauricular tag or pit

External Meatus Stenosis

Stenosis (narrowing) of the external auditory meatus is uncommon and can be due to chronic otitis externa or acquired atresia. The condition can be treated surgically by meatoplasty (reconstructive surgery of the canal) alone, though acquired atresia requires removal of the soft tissue plug and a split skin graft.

Search PubMed: external meatus stenosis

Congenital Deafness

Sensorineural - cochlear or central auditory pathway Conductive - disease of outer and middle ear

Sensorineural

Cochlear or central auditory pathway

  • 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
    • cytomegalovirus [14][15]
    • streptomycin
    • antibiotic
    • thalidomide
Links: Cytomegalovirus | Rubella | Drugs | Thalidomide

Conductive

Disease of outer and middle ear

  • produced by otitis media with effusion, is widespread in young children.
  • temporary blockage of outer or middle ear

Ototoxic Medications

  • Aminoglycoside antibiotics – degeneration of inner hair cells.
  • Chemotherapeutic agents – cochlear metabolism toxicity
  • Salicylates – cochlear metabolism toxicity (reversible).
  • Nonsteroidal anti-inflammatory drugs – cochlear metabolism toxicity (reversible).
  • Quinine – cochlear metabolism toxicity.
  • Loop diuretics - degeneration of inner hair cells.
  • Erythromycin – possible effect on central nervous system pathways.
  • Vancomycin – etiology unknown, usually enhances aminoglycocide toxicity.


Data[16]

Newborn Hearing Screening

Australia

Newborn hearing test

In Australia, there is now an early postnatal screening of neonatal hearing as part of a NSW State Wide Infant Screening Hearing (SWISH) Program using Automated Auditory Brainstem Response (AABR).


Links: NSW Statewide Infant Screening - Hearing (SWISH) Program

Germany

Multicenter newborn hearing screening project[1] "From the actual point of view, the "sensitive period" for the effects of hearing impairment on speech and language development is within the first year of life. Early exposure to acoustic or electric stimulation can compensate for the acoustic deficit. A regional-based, specifically designed concept of a universal newborn hearing screening (UNHS) was started in Hamburg in the year 2002. ...Sixty-three thousand, four hundred fifty-nine out of 65,466 births were registered during the period August 2002 to July 2006, 93% were primarily screened. 3.3% failed the test and 31.3% were lost to follow-up. A total of 118 children were diagnosed with hearing loss in the follow-up."

Nigeria

Very low birthweight infants and universal newborn hearing screening[17] "very low birth weight (VLBW) infants in resource-poor settings are associated with the risk of sensorineural hearing loss and other perinatal outcomes that may potentially compromise their optimal development in early childhood."

Cochlear Implant

Cochlear implant (NIDCD - Cochlear Implants)

The "Bionic Ear" was pioneered in development by Professor Graeme Clark in Australia (1960s) and first successfully used in 1978, there are now a variety of different implant devices.[18] By the year 2000 more than 13,000 children worldwide have received these implants. The medical device consists of an array of electrodes implanted within cochlea, that directly electrically stimulate the auditory nerve fibres.

The sound used to test persons with cochlear implants can be delivered by two methods, referred to as ‘‘HL’’ (hearing level) and ‘‘SPL’’ (sound pressure level), both of these methods are expressed in dB, but a specific dB HL is not the same level of loudness as the same dB SPL.

  • Young children with cochlear implants compared with children with normal hearing.[19]

Fetal Alcohol Syndrome

Fetal Alcohol Syndrome Face
  • Postion- Lower or uneven height, "railroad track” appearance, curve at top part of outer ear is under-developed, folded over parallel to curve beneath
Links: Abnormal Development - Fetal Alcohol Syndrome

References

  1. ↑ 1.0 1.1 Anna-Katharina Rohlfs, Thomas Wiesner, Holger Drews, Frank Müller, Achim Breitfuss, Regina Schiller, Markus Hess Interdisciplinary approach to design, performance, and quality management in a multicenter newborn hearing screening project: introduction, methods, and results of the newborn hearing screening in Hamburg (Part I). Eur. J. Pediatr.: 2010, 169(11);1353-60 PMID:20549232
  2. ↑
  3. ↑ A L Poirrier, P Van den Ackerveken, T S Kim, R Vandenbosch, L Nguyen, P P Lefebvre, B Malgrange Ototoxic drugs: difference in sensitivity between mice and guinea pigs. Toxicol. Lett.: 2010, 193(1);41-9 PMID:20015469
  4. ↑ S M Shah, S S Prabhu, R H Merchant Mondini defect. J Postgrad Med: , 47(4);272-3 PMID:11832648
  5. ↑ Mondini C. Anatomia surdi nati sectio: De Bononiensi Scientiarum et Artium Institute atque Academia commentarii. Bononiae. 1791;7:419-428
  6. ↑ W W Lo What is a 'Mondini' and what difference does a name make? AJNR Am J Neuroradiol: 1999, 20(8);1442-4 PMID:10512226
  7. ↑ Ahmad Daneshi, Yousef Shafeghati, Mohammad Hassan Karimi-Nejad, Amir Khosravi, Fariba Farhang Hereditary bilateral conductive hearing loss caused by total loss of ossicles: a report of familial expansile osteolysis. Otol. Neurotol.: 2005, 26(2);237-40 PMID:15793411
  8. ↑ R E Wehrs Congenital absence of the long process of the incus. Laryngoscope: 1999, 109(2 Pt 1);192-7 PMID:10890764
  9. ↑ Michael D Seidman, Seilesh Babu A new approach for malleus/incus fixation: no prosthesis necessary. Otol. Neurotol.: 2004, 25(5);669-73 PMID:15353993
  10. ↑ G J Carvalho, C S Song, K Vargervik, A K Lalwani Auditory and facial nerve dysfunction in patients with hemifacial microsomia. Arch. Otolaryngol. Head Neck Surg.: 1999, 125(2);209-12 PMID:10037288
  11. ↑ R Silbergleit, D J Quint, B A Mehta, S C Patel, J J Metes, S E Noujaim The persistent stapedial artery. AJNR Am J Neuroradiol: 2000, 21(3);572-7 PMID:10730654
  12. ↑ Shane Aldwin Zim Microtia reconstruction: an update. Curr Opin Otolaryngol Head Neck Surg: 2003, 11(4);275-81 PMID:14515077
  13. ↑ M Granitzer, W Nagel, J Crabbé Voltage dependent membrane conductances in cultured renal distal cells. Biochim. Biophys. Acta: 1991, 1069(1);87-93 PMID:1657165
  14. ↑ Yoav Yinon, Dan Farine, Mark H Yudin, Robert Gagnon, Lynda Hudon, Melanie Basso, Hayley Bos, Marie-Franc Delisle, Savas Menticoglou, William Mundle, Annie Ouellet, Tracy Pressey, Anne Roggensack, Marc Boucher, Eliana Castillo, Andrée Gruslin, Deborah M Money, Kellie Murphy, Gina Ogilvie, Caroline Paquet, Nancy Van Eyk, Julie van Schalkwyk, Fetal Medicine Committee, Society of Obstetricians and Gynaecologists of Canada Cytomegalovirus infection in pregnancy. J Obstet Gynaecol Can: 2010, 32(4);348-54 PMID:20500943
  15. ↑ Natacha Teissier, Anne-Lise Delezoide, Anne-Elisabeth Mas, Suonavy Khung-Savatovsky, Bettina Bessières, Jeannette Nardelli, Christelle Vauloup-Fellous, Olivier Picone, Nadira Houhou, Jean-François Oury, Thierry Van Den Abbeele, Pierre Gressens, Homa Adle-Biassette Inner ear lesions in congenital cytomegalovirus infection of human fetuses. Acta Neuropathol.: 2011, 122(6);763-74 PMID:22033878
  16. ↑ NSW Statewide Infant Screening - Hearing (SWISH) Program Guideline (2010) PDF
  17. ↑ Bolajoko O Olusanya Perinatal profile of very low birthweight infants under a universal newborn hearing screening programme in a developing country: a case-control study. Dev Neurorehabil: 2010, 13(3);156-63 PMID:20450464
  18. ↑ Graeme M Clark Personal reflections on the multichannel cochlear implant and a view of the future. J Rehabil Res Dev: 2008, 45(5);651-93 PMID:18816421 JRRD
  19. ↑ Bianka Schramm, Andrea Bohnert, Annerose Keilmann Auditory, speech and language development in young children with cochlear implants compared with children with normal hearing. Int. J. Pediatr. Otorhinolaryngol.: 2010, 74(7);812-9 PMID:20452685

Online Textbooks

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Articles

Kirsten Dutton, Leila Abbas, Joanne Spencer, Claire Brannon, Catriona Mowbray, Masataka Nikaido, Robert N Kelsh, Tanya T Whitfield A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle. Dis Model Mech: , 2(1-2);68-83 PMID:19132125

Douglas H Keefe, Michael P Gorga, Walt Jesteadt, Lynette M Smith Ear asymmetries in middle-ear, cochlear, and brainstem responses in human infants. J. Acoust. Soc. Am.: 2008, 123(3);1504-12 PMID:18345839


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  • Preauricular tag

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Cite this page:

Hill, M.A. (2013) Sensory - Hearing Abnormalities. Retrieved June 19, 2013, from http://php.med.unsw.edu.au/embryology/index.php?title=Sensory_-_Hearing_Abnormalities


Dr Mark Hill 2013, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
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