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{{ClinPsy}}
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'''AR Sensorineural Hearing Loss (DFNB1/Connexin 26)'''
  +
  +
==Introduction==
  +
*Acknowledge prior phone contact
  +
*What information have you been given already?
  +
*Have you done any research on your own? What have you found out?
  +
*What concerns or questions would you like to have answered today?
  +
*Outline session
  +
  +
==Complete Medical History==
  +
  +
==Complete Family History and Pedigree==
  +
  +
==Prevalence==
  +
*DFNB1 accounts for 50% of AR sensorineural hearing loss
  +
*Prevalence is ~14/100,000
  +
**1/2000 congenital hearing impairment
  +
**70% of these are nonsyndromic
  +
**80% of nonsyndromic hearing loss is AR
  +
**50% of these are due to GJB2 mutation
  +
*1/30 people in general population are carriers
  +
  +
==Genetics==
  +
*Gene: GJB2
  +
*Chromosome location: 13q11-12
  +
*Protein: Connexin 26
  +
**Gap junction protein
  +
**Involved in conducing signal to the brain
  +
*Autosomal recessive inheritance
  +
**25% risk of hearing loss for future children
  +
**50% risk of being a carrier for the mutation
  +
**25% risk of being an unaffected noncarrier
  +
  +
==Molecular Testing==
  +
*Detects 95% of disease-causing mutations
  +
*~66% of mutations - 35delG
  +
*~30% of mutations - other GJB2 mutations
  +
*~4% mutations - unknown
  +
*carrier testing is available and can be offered to at-risk family members
  +
*prenatal testing is available but rarely pursued
  +
  +
==Clinical Features==
  +
*nonprogressive sensorineural hearing impairment
  +
**severe to severe-profound hearing loss
  +
**diagnosed by Auditory Brainstem Response or pure tone audiometry and presence of no related anomalies
  +
*no other associated health problems
  +
*no balance problems
  +
  +
==Management==
  +
*When diagnosis is known or suspected
  +
**Assessment of auditory acuity by ABR or pure tone audiometry
  +
**Fitting with hearing aids
  +
**Early intervention
  +
*Follow-up care
  +
**semiannual examination by physician familiar with hereditary hearing impairment
  +
**repeat pure tone audiometry to confirm stability of loss
  +
**consideration for cochlear implants
  +
*prelingual deafness associate with decreased cognitive skills and decreased math skills
  +
**early intervention can help ameliorate these affects
  +
  +
==Psychosocial Issues==
  +
*Deaf child born to hearing parents
  +
*How did you feel when you first found out?
  +
*How have your feelings changed?
  +
*How have other family members reacted?
  +
*Have you been in contact with any other families?
  +
*Have you been in contact with any support groups?
  +
  +
==Resources==
  +
*American Society for Deaf Children
  +
:PO Box 3355
  +
:Gettysburg, PA 17325
  +
:Phone: 717-334-7922
  +
:Fax: 717-334-8808
  +
:Email: ASDC1@aol.com
  +
:[http://www.deafchildren.org]
  +
*National Association of the Deaf
  +
:814 Thayer
  +
:Silver Spring, MD 20910
  +
:Phone: 301-587-1788
  +
:Fax: 305-587-1791
  +
:Email: NADinfo@nad.org
  +
:[http://www.nad.org]
  +
  +
==References==
  +
*Geneclinics: Nonsyndromic Hearing Loss and Deafness, DFNB1
  +
*National Information Center on Deafness
  +
*Clinical Genetics Lecture
  +
  +
==Notes==
  +
The information in this outline was last updated in 2002.
  +
  +
  +
  +
  +
Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling
  +
  +
{{GFDL}}

Latest revision as of 00:20, November 22, 2007

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AR Sensorineural Hearing Loss (DFNB1/Connexin 26)

IntroductionEdit

  • Acknowledge prior phone contact
  • What information have you been given already?
  • Have you done any research on your own? What have you found out?
  • What concerns or questions would you like to have answered today?
  • Outline session

Complete Medical HistoryEdit

Complete Family History and PedigreeEdit

PrevalenceEdit

  • DFNB1 accounts for 50% of AR sensorineural hearing loss
  • Prevalence is ~14/100,000
    • 1/2000 congenital hearing impairment
    • 70% of these are nonsyndromic
    • 80% of nonsyndromic hearing loss is AR
    • 50% of these are due to GJB2 mutation
  • 1/30 people in general population are carriers

GeneticsEdit

  • Gene: GJB2
  • Chromosome location: 13q11-12
  • Protein: Connexin 26
    • Gap junction protein
    • Involved in conducing signal to the brain
  • Autosomal recessive inheritance
    • 25% risk of hearing loss for future children
    • 50% risk of being a carrier for the mutation
    • 25% risk of being an unaffected noncarrier

Molecular TestingEdit

  • Detects 95% of disease-causing mutations
  • ~66% of mutations - 35delG
  • ~30% of mutations - other GJB2 mutations
  • ~4% mutations - unknown
  • carrier testing is available and can be offered to at-risk family members
  • prenatal testing is available but rarely pursued

Clinical FeaturesEdit

  • nonprogressive sensorineural hearing impairment
    • severe to severe-profound hearing loss
    • diagnosed by Auditory Brainstem Response or pure tone audiometry and presence of no related anomalies
  • no other associated health problems
  • no balance problems

ManagementEdit

  • When diagnosis is known or suspected
    • Assessment of auditory acuity by ABR or pure tone audiometry
    • Fitting with hearing aids
    • Early intervention
  • Follow-up care
    • semiannual examination by physician familiar with hereditary hearing impairment
    • repeat pure tone audiometry to confirm stability of loss
    • consideration for cochlear implants
  • prelingual deafness associate with decreased cognitive skills and decreased math skills
    • early intervention can help ameliorate these affects

Psychosocial IssuesEdit

  • Deaf child born to hearing parents
  • How did you feel when you first found out?
  • How have your feelings changed?
  • How have other family members reacted?
  • Have you been in contact with any other families?
  • Have you been in contact with any support groups?

ResourcesEdit

  • American Society for Deaf Children
PO Box 3355
Gettysburg, PA 17325
Phone: 717-334-7922
Fax: 717-334-8808
Email: ASDC1@aol.com
[1]
  • National Association of the Deaf
814 Thayer
Silver Spring, MD 20910
Phone: 301-587-1788
Fax: 305-587-1791
Email: NADinfo@nad.org
[2]

ReferencesEdit

  • Geneclinics: Nonsyndromic Hearing Loss and Deafness, DFNB1
  • National Information Center on Deafness
  • Clinical Genetics Lecture

NotesEdit

The information in this outline was last updated in 2002.



Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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