Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation Affecting FOXP2.
Purpose: The primary goal of this case study was to describe the speech, prosody, and voice characteristics of a mother and daughter with a breakpoint in a balanced 7;13 chromosomal translocation that disrupted the transcription gene, FOXP2 (cf. J. B. Tomblin et al., 2005). As with affected members...
| Publicado en: | Journal of Speech, Language & Hearing Research Vol. 49; no. 3; pp. 500 - 526 |
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| Autores principales: | , , |
| Formato: | Artículo |
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American Speech-Language-Hearing Association
June 2006
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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=ssf&AN=507894200&site=ehost-live header: @attributes: shortDbName: ssf uiTerm: 507894200 longDbName: Social Sciences Full Text (H.W. Wilson) uiTag: AN controlInfo: bkinfo: jinfo: jid: 10924388 1SM jtl: Journal of Speech, Language & Hearing Research issn: 10924388 maglogo: N pubinfo: dt: June 2006 vid: 49 iid: 3 pid: 42 pub: American Speech-Language-Hearing Association artinfo: ui: 507894200 10.1044/1092-4388(2006/038) ppf: 500 ppct: 26 formats: fmt: – @attributes: type: T – @attributes: type: P size: 722KB tig: atl: Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation Affecting FOXP2. aug: au: Shriberg, Lawrence D. Ballard, Kirrie J. Tomblin, J. Bruce su: Speech disorders Chromosome abnormalities Rhythm in the English language Genetic disorders sug: subj: Speech disorders Chromosome abnormalities Rhythm in the English language Genetic disorders ab: Purpose: The primary goal of this case study was to describe the speech, prosody, and voice characteristics of a mother and daughter with a breakpoint in a balanced 7;13 chromosomal translocation that disrupted the transcription gene, FOXP2 (cf. J. B. Tomblin et al., 2005). As with affected members of the widely cited KE family, whose communicative disorders have been associated with a point mutation in the FOXP2 gene, both mother and daughter had cognitive, language, and speech challenges. A 2nd goal of the study was to illustrate in detail, the types of speech, prosody, and voice metrics that can contribute to phenotype sharpening in speech-genetics research. Method: A speech, prosody, and voice assessment protocol was administered twice within a 4-month period. Analyses were aided by comparing profiles from the present speakers (the TB family) with those from 2 groups of adult speakers: 7 speakers with acquired (with one exception) spastic or spastic-flaccid dysarthria and 14 speakers with acquired apraxia of speech. Results: The descriptive and inferential statistical findings for 13 speech, prosody, and voice variables supported the conclusion that both mother and daughter had spastic dysarthria, an apraxia of speech, and residual developmental distortion errors. Conclusion: These findings are consistent with, but also extend, the reported communicative disorders in affected members of the KE family. A companion article (K. J. Ballard, L. D. Shriberg, J. R. Duffy, & J. B. Tomblin, 2006) reports information from the orofacial and speech motor control measures administered to the same family; reports on neuropsychological and neuroimaging findings are in preparation. Reprinted by permission of the publisher. pubtype: Academic Journal doctype: Article src: R language: English refInfo: copyright: @attributes: flag: N holdings: @attributes: islocal: N |
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