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Language phenotypes of autism

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TitleInfo
Title
Language phenotypes of autism
SubTitle
towards an understanding of the communication domain of autism
Name (type = personal)
NamePart (type = family)
Hare
NamePart (type = given)
Abby Elise
NamePart (type = date)
1985-
DisplayForm
Abby Hare
Role
RoleTerm (authority = RULIB)
author
Name (type = personal)
NamePart (type = family)
Brzustowicz
NamePart (type = given)
Linda M
DisplayForm
Linda M Brzustowicz
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
chair
Name (type = personal)
NamePart (type = family)
Millonig
NamePart (type = given)
James H
DisplayForm
James H Millonig
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
internal member
Name (type = personal)
NamePart (type = family)
Firestein
NamePart (type = given)
Bonnie L
DisplayForm
Bonnie L Firestein
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
internal member
Name (type = personal)
NamePart (type = family)
Matise
NamePart (type = given)
Tara
DisplayForm
Tara Matise
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
internal member
Name (type = personal)
NamePart (type = family)
Costa
NamePart (type = given)
Gerard
DisplayForm
Gerard Costa
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
outside member
Name (type = corporate)
NamePart
Rutgers University
Role
RoleTerm (authority = RULIB)
degree grantor
Name (type = corporate)
NamePart
Graduate School - New Brunswick
Role
RoleTerm (authority = RULIB)
school
TypeOfResource
Text
Genre (authority = marcgt)
theses
OriginInfo
DateCreated (qualifier = exact)
2013
DateOther (qualifier = exact); (type = degree)
2013-10
Place
PlaceTerm (type = code)
xx
Language
LanguageTerm (authority = ISO639-2b); (type = code)
eng
Abstract (type = abstract)
Autism spectrum disorders (ASD) are complex neurodevelopmental disorders that are characterized by deficits in communication, social impairment, and the presence of restricted and repetitive behaviors. The work presented in this dissertation aims to reduce the genetic heterogeneity of samples ascertained for ASD by developing communication phenotypes for use in two genetics studies. Communication impairments in ASD can include impairments in speech or language and, like all traits in ASD, can range in severity from person to person. The first study involved a genome-wide linkage analysis in a sample of multiplex autism families for two non-verbal motor speech (NVMSD) phenotypes: NVMSD:ALL including nonverbal and minimally verbal subjects and NVMSD:C where there is behavioral evidence that language comprehension is relatively intact. Evidence for linkage was identified on several chromosomes: 1q24.2, 3q25.31, 4q22.3, 5p12, 5q33.1, 17p12, 17q11.2, and 17q22 for NVMSD:ALL and 4p15.2 and 21q22.2 for NVMSD:C. Genome-wide analysis and fine mapping of candidate genes did not produce strong evidence for association. The second study identified language (LI) and reading (RI) impairment phenotypes in a dataset ascertained for autism and specific language impairment (SLI) in the same family. These families were extensively phenotyped with a comprehensive testing battery where all language measures were found to be heritable. In addition to LI and RI, social impairment and obsessive-compulsive behavioral phenotypes were identified in these families using well-respected assessments (SRS and Y-BOCS, respectively). Genome-wide linkage analysis yielded evidence for linkage on 13q21.2 (YBOCS), 14q32.31 (SRS), 15q25.1 (LI), 15q26.2 (SRS), and 16p12.3 (RI). Genome-wide analysis and fine mapping of candidate genes did not produce strong evidence for association. The identification of non-overlapping loci for each phenotype supports the hypothesis that these phenotypes successfully identify unique communication and social impairment loci in ASD. Furthermore, as the second study was conducted in families ascertained for autism and for SLI, these results support the hypothesis that some individuals with ASD and those with SLI without ASD may have some shared genetic etiology. The lack strong evidence for association suggests that rare and/or multiple variants may play a role in the etiology of ASD.
Subject (authority = RUETD)
Topic
Microbiology and Molecular Genetics
RelatedItem (type = host)
TitleInfo
Title
Rutgers University Electronic Theses and Dissertations
Identifier (type = RULIB)
ETD
Identifier
ETD_4915
PhysicalDescription
Form (authority = gmd)
electronic resource
InternetMediaType
application/pdf
InternetMediaType
text/xml
Extent
xii, 273 p. : ill.
Note (type = degree)
Ph.D.
Note (type = bibliography)
Includes bibliographical references
Note (type = statement of responsibility)
by Abby Elise Hare
Subject (authority = ETD-LCSH)
Topic
Autism spectrum disorders
Subject (authority = ETD-LCSH)
Topic
Communicative disorders
Subject (authority = ETD-LCSH)
Topic
Language disorders
Subject (authority = ETD-LCSH)
Topic
Genetics--Research
RelatedItem (type = host)
TitleInfo
Title
Graduate School - New Brunswick Electronic Theses and Dissertations
Identifier (type = local)
rucore19991600001
Location
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NjNbRU
Identifier (type = doi)
doi:10.7282/T36T0JPT
Genre (authority = ExL-Esploro)
ETD doctoral
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Rights

RightsDeclaration (ID = rulibRdec0006)
The author owns the copyright to this work.
RightsHolder (type = personal)
Name
FamilyName
Hare
GivenName
Abby
Role
Copyright Holder
RightsEvent
Type
Permission or license
DateTime (encoding = w3cdtf); (qualifier = exact); (point = start)
2013-07-18 15:15:23
AssociatedEntity
Name
Abby Hare
Role
Copyright holder
Affiliation
Rutgers University. Graduate School - New Brunswick
AssociatedObject
Type
License
Name
Author Agreement License
Detail
I hereby grant to the Rutgers University Libraries and to my school the non-exclusive right to archive, reproduce and distribute my thesis or dissertation, in whole or in part, and/or my abstract, in whole or in part, in and from an electronic format, subject to the release date subsequently stipulated in this submittal form and approved by my school. I represent and stipulate that the thesis or dissertation and its abstract are my original work, that they do not infringe or violate any rights of others, and that I make these grants as the sole owner of the rights to my thesis or dissertation and its abstract. I represent that I have obtained written permissions, when necessary, from the owner(s) of each third party copyrighted matter to be included in my thesis or dissertation and will supply copies of such upon request by my school. I acknowledge that RU ETD and my school will not distribute my thesis or dissertation or its abstract if, in their reasonable judgment, they believe all such rights have not been secured. I acknowledge that I retain ownership rights to the copyright of my work. I also retain the right to use all or part of this thesis or dissertation in future works, such as articles or books.
RightsEvent
DateTime (encoding = w3cdtf); (qualifier = exact); (point = start)
2013-10-31
DateTime (encoding = w3cdtf); (qualifier = exact); (point = end)
2014-10-31
Type
Embargo
Detail
Access to this PDF has been restricted at the author's request. It will be publicly available after October 31st, 2014.
Copyright
Status
Copyright protected
Availability
Status
Open
Reason
Permission or license
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ETD
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windows xp
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