Matches in SemOpenAlex for { <https://semopenalex.org/work/W1992073151> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W1992073151 endingPage "201" @default.
- W1992073151 startingPage "193" @default.
- W1992073151 abstract "Prader–Willi syndrome (PWS), most recognized for the hallmark hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the q11-13 region of chromosome 15. Since the recognition of PWS as a genetic disorder, most research has focused primarily on the medical, genetic, and behavioral aspects of the syndrome. Extensive research has not been conducted on the cognitive, speech, and language abilities in PWS. In addition, language differences with regard to genetic mechanism of PWS have not been well investigated. To date, research indicates overall language ability is markedly below chronological age with expressive language more impaired than receptive language in people with PWS. Thus, the aim of the present study was to further characterize expressive and receptive language ability in 35 participants with PWS and compare functioning by genetic subtype using the Clinical Evaluation of Language Fundamentals-4 (CELF-IV). Results indicate that core language ability is significantly impaired in PWS and both expressive and receptive abilities are significantly lower than verbal intelligence. In addition, participants with the maternal uniparental disomy (mUPD) genetic subtype exhibit discrepant language functioning with higher expressive vs. receptive language abilities. Future research is needed to further examine language functioning in larger genetic subtype participant samples using additional descriptive measures. Further work should also delineate findings with respect to size of the paternal deletion (Type 1 and Type 2 deletions) and explore how overexpression of maternally expressed genes in the 15q11-13 region may relate to verbal ability. Learning outcomes: After reading this article, the reader will be able to: (1) summarize primary characteristics of Prader–Willi syndrome (PWS), (2) describe differentiating characteristics for the PWS genetic subtypes, (3) recall limited research regarding language functioning in PWS to date, (4) summarize potential genetic variations of language ability in Prader–Willi syndrome, and (5) summarize language ability in PWS with respect to adaptive functioning." @default.
- W1992073151 created "2016-06-24" @default.
- W1992073151 creator A5019999751 @default.
- W1992073151 creator A5044690851 @default.
- W1992073151 creator A5063225248 @default.
- W1992073151 date "2013-03-01" @default.
- W1992073151 modified "2023-10-16" @default.
- W1992073151 title "Expressive and receptive language in Prader–Willi syndrome: Report on genetic subtype differences" @default.
- W1992073151 cites W1493472096 @default.
- W1992073151 cites W1967307863 @default.
- W1992073151 cites W1970945725 @default.
- W1992073151 cites W1971361786 @default.
- W1992073151 cites W1976543350 @default.
- W1992073151 cites W1990826363 @default.
- W1992073151 cites W2023393897 @default.
- W1992073151 cites W2023967404 @default.
- W1992073151 cites W2031482412 @default.
- W1992073151 cites W2038501994 @default.
- W1992073151 cites W2047852850 @default.
- W1992073151 cites W2055322868 @default.
- W1992073151 cites W2055573605 @default.
- W1992073151 cites W2057753811 @default.
- W1992073151 cites W2066563455 @default.
- W1992073151 cites W2067614317 @default.
- W1992073151 cites W2091409821 @default.
- W1992073151 cites W2094215765 @default.
- W1992073151 cites W2118929226 @default.
- W1992073151 cites W2122118417 @default.
- W1992073151 cites W2125963513 @default.
- W1992073151 cites W2131191879 @default.
- W1992073151 cites W2154494149 @default.
- W1992073151 doi "https://doi.org/10.1016/j.jcomdis.2012.12.001" @default.
- W1992073151 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23295077" @default.
- W1992073151 hasPublicationYear "2013" @default.
- W1992073151 type Work @default.
- W1992073151 sameAs 1992073151 @default.
- W1992073151 citedByCount "33" @default.
- W1992073151 countsByYear W19920731512015 @default.
- W1992073151 countsByYear W19920731512016 @default.
- W1992073151 countsByYear W19920731512017 @default.
- W1992073151 countsByYear W19920731512018 @default.
- W1992073151 countsByYear W19920731512019 @default.
- W1992073151 countsByYear W19920731512020 @default.
- W1992073151 countsByYear W19920731512021 @default.
- W1992073151 countsByYear W19920731512022 @default.
- W1992073151 countsByYear W19920731512023 @default.
- W1992073151 crossrefType "journal-article" @default.
- W1992073151 hasAuthorship W1992073151A5019999751 @default.
- W1992073151 hasAuthorship W1992073151A5044690851 @default.
- W1992073151 hasAuthorship W1992073151A5063225248 @default.
- W1992073151 hasConcept C104317684 @default.
- W1992073151 hasConcept C138496976 @default.
- W1992073151 hasConcept C15744967 @default.
- W1992073151 hasConcept C169760540 @default.
- W1992073151 hasConcept C169900460 @default.
- W1992073151 hasConcept C180747234 @default.
- W1992073151 hasConcept C207259873 @default.
- W1992073151 hasConcept C2777102477 @default.
- W1992073151 hasConcept C2778073708 @default.
- W1992073151 hasConcept C3019804573 @default.
- W1992073151 hasConcept C54355233 @default.
- W1992073151 hasConcept C86339819 @default.
- W1992073151 hasConcept C86803240 @default.
- W1992073151 hasConceptScore W1992073151C104317684 @default.
- W1992073151 hasConceptScore W1992073151C138496976 @default.
- W1992073151 hasConceptScore W1992073151C15744967 @default.
- W1992073151 hasConceptScore W1992073151C169760540 @default.
- W1992073151 hasConceptScore W1992073151C169900460 @default.
- W1992073151 hasConceptScore W1992073151C180747234 @default.
- W1992073151 hasConceptScore W1992073151C207259873 @default.
- W1992073151 hasConceptScore W1992073151C2777102477 @default.
- W1992073151 hasConceptScore W1992073151C2778073708 @default.
- W1992073151 hasConceptScore W1992073151C3019804573 @default.
- W1992073151 hasConceptScore W1992073151C54355233 @default.
- W1992073151 hasConceptScore W1992073151C86339819 @default.
- W1992073151 hasConceptScore W1992073151C86803240 @default.
- W1992073151 hasIssue "2" @default.
- W1992073151 hasLocation W19920731511 @default.
- W1992073151 hasLocation W19920731512 @default.
- W1992073151 hasOpenAccess W1992073151 @default.
- W1992073151 hasPrimaryLocation W19920731511 @default.
- W1992073151 hasRelatedWork W1943216506 @default.
- W1992073151 hasRelatedWork W1992073151 @default.
- W1992073151 hasRelatedWork W1997614732 @default.
- W1992073151 hasRelatedWork W2051831694 @default.
- W1992073151 hasRelatedWork W2065705116 @default.
- W1992073151 hasRelatedWork W2079468847 @default.
- W1992073151 hasRelatedWork W2086181683 @default.
- W1992073151 hasRelatedWork W2331967079 @default.
- W1992073151 hasRelatedWork W2726864214 @default.
- W1992073151 hasRelatedWork W3085229859 @default.
- W1992073151 hasVolume "46" @default.
- W1992073151 isParatext "false" @default.
- W1992073151 isRetracted "false" @default.
- W1992073151 magId "1992073151" @default.
- W1992073151 workType "article" @default.