Impact of chromosome 4p- syndrome on communication and expressive language skills: a preliminary investigation.
PURPOSE: The purpose of this investigation was to examine the impact of Chromosome 4p- syndrome on the communication and expressive language phenotype of a large cross-cultural population of children, adolescents, and adults. METHOD: A large-scale survey study was conducted and a descriptive researc...
| Publicado en: | Language, Speech & Hearing Services in Schools Vol. 41; no. 3; pp. 265 - 277 |
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| Autor principal: | |
| Formato: | pictorial research tables/charts Journal Article |
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American Speech-Language-Hearing Association
Jul2010
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=105046784&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 105046784 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01611461 LSH jtl: Language, Speech & Hearing Services in Schools issn: 01611461 maglogo: N pubinfo: dt: Jul2010 vid: 41 iid: 3 pid: 42 pub: American Speech-Language-Hearing Association place: Rockville, Maryland artinfo: ui: 105046784 2010705710 10.1044/0161-1461(2009/08-0098) NLM20421614 105046784 ppf: 265 ppct: 12 formats: fmt: @attributes: type: P tig: atl: Impact of chromosome 4p- syndrome on communication and expressive language skills: a preliminary investigation. aug: au: Marshall AT affil: Southern Connecticut State University, Department of Communication Disorders, Davis Hall Room 012 L 501, Crescent Street, New Haven, CT 06515; marshalla1@southernct.edu sug: subj: Chromosome Disorders Communication Skills Communicative Disorders Phenotype Adolescence Adult Angelman Syndrome Child Child, Preschool Clinical Assessment Tools Descriptive Research Descriptive Statistics Female Funding Source Human Incidence Infant Intrarater Reliability Language Male Middle Age Questionnaires Adolescent: 13-18 years Adult: 19-44 years Child: 6-12 years Child, Preschool: 2-5 years Infant: 1-23 months Middle Aged: 45-64 years Female Male ab: PURPOSE: The purpose of this investigation was to examine the impact of Chromosome 4p- syndrome on the communication and expressive language phenotype of a large cross-cultural population of children, adolescents, and adults. METHOD: A large-scale survey study was conducted and a descriptive research design was used to analyze quantitative and qualitative data regarding the communication and expressive language manifestations of 200 children, youth, and adults from 16 countries and Puerto Rico who had been diagnosed with 4p conditions, including Wolf-Hirschhorn syndrome (WHS), Pitt-Rogers-Danks syndrome (PRDS), Proximal 4p Deletion syndrome, and complex chromosomal rearrangements associated with 4p-. RESULTS: Individuals with Chromosome 4p- syndrome represent a heterogeneous population with complex phenotypic profiles. The majority of the participants exhibited communication and expressive language skills below the 36-month developmental functioning level. A relatively small cohort of the study population exhibited advanced expressive language skills, a finding not reported in the professional literature. CONCLUSION: Results broaden the spectrum of expressive language skills associated with Chromosome 4p- syndrome and highlight the communication potential of a subset of individuals with 4p abnormalities for development of advanced language structures. It is hypothesized that the largest 4p deletion, which includes the 4p16.3 band and contiguous gene regions, results in the most severely affected expressive language phenotype. pubtype: Academic Journal doctype: pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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