KUKU

KU ScholarWorks

  • myKU
  • Email
  • Enroll & Pay
  • KU Directory
    • Login
    View Item 
    •   KU ScholarWorks
    • Dissertations and Theses
    • Theses
    • View Item
    •   KU ScholarWorks
    • Dissertations and Theses
    • Theses
    • View Item
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    Mapping Chromosomal Loci in Specific Language Impairment: A Pedigree-Focused Approach

    Thumbnail
    View/Open
    Available after: 2019-05-31 (1.861Mb)
    Issue Date
    2018-05-31
    Author
    Andres, Erin M
    Publisher
    University of Kansas
    Format
    75 pages
    Type
    Thesis
    Degree Level
    M.A.
    Discipline
    Child Language
    Rights
    Copyright held by the author.
    Metadata
    Show full item record
    Abstract
    Specific language impairment (SLI) is characterized by a delay in the mastery of language despite average or above average nonverbal intelligence (IQ). There are multiple assessments used in practice to measure the language abilities of individuals with SLI. Standardized language assessments in conjunction with a measure of nonverbal IQ are the most crucial for distinguishing individuals with and without SLI in research practice. Studies have found that the incidence of SLI in extended relatives of probands is significantly higher than population matched relatives of controls. The heritability estimates of SLI are higher in MZ twins than DZ twins. Both family and twin studies indicate genetic involvement in the transmission of SLI. Previous genetic studies in SLI have found candidate chromosomal loci on 2q24, 6p21, 10q26, 12p13, 21q, and several candidate genes including TM4SF20, NFXL1, CNTNAP2, KIAA0319, CMIP, and ATP2C2 have been implicated in SLI. However, the causes of SLI are not well understood and investigation may benefit from family-based approaches. The current study approached genetic investigation of SLI one pedigree at a time. We report SLI loci on chromosomes 4q, 3p, 6q, 9q, 10q, 12p, 14q and 15q linked with the omnibus standard score categorical phenotype, indicating genetic and phenotypic heterogeneity of SLI. These findings support the discussion of previous hypotheses that SLI is a polygenic disorder, with multiple loci reported in a few of the families included in this report.
    URI
    http://hdl.handle.net/1808/27806
    Collections
    • Speech-Language-Hearing Dissertations and Theses [75]
    • Theses [3825]

    Items in KU ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.


    We want to hear from you! Please share your stories about how Open Access to this item benefits YOU.


    Contact KU ScholarWorks
    785-864-8983
    KU Libraries
    1425 Jayhawk Blvd
    Lawrence, KS 66045
    785-864-8983

    KU Libraries
    1425 Jayhawk Blvd
    Lawrence, KS 66045
    Image Credits
     

     

    Browse

    All of KU ScholarWorksCommunities & CollectionsThis Collection

    My Account

    LoginRegister

    Statistics

    View Usage Statistics

    Contact KU ScholarWorks
    785-864-8983
    KU Libraries
    1425 Jayhawk Blvd
    Lawrence, KS 66045
    785-864-8983

    KU Libraries
    1425 Jayhawk Blvd
    Lawrence, KS 66045
    Image Credits
     

     

    The University of Kansas
      Contact KU ScholarWorks
    Lawrence, KS | Maps
     
    • Academics
    • Admission
    • Alumni
    • Athletics
    • Campuses
    • Giving
    • Jobs

    The University of Kansas prohibits discrimination on the basis of race, color, ethnicity, religion, sex, national origin, age, ancestry, disability, status as a veteran, sexual orientation, marital status, parental status, gender identity, gender expression and genetic information in the University’s programs and activities. The following person has been designated to handle inquiries regarding the non-discrimination policies: Director of the Office of Institutional Opportunity and Access, IOA@ku.edu, 1246 W. Campus Road, Room 153A, Lawrence, KS, 66045, (785)864-6414, 711 TTY.

     Contact KU
    Lawrence, KS | Maps