Speech, Prosody, and Voice Characteristics of a Mother and Daughter with a 7;13 Translocation Affecting "FOXP2"

Autor/inn/en	Shriberg, Lawrence D.; Ballard, Kirrie J.; Tomblin, J. Bruce; Duffy, Joseph R.; Odell, Katharine H.; Williams, Charles A.
Titel	Speech, Prosody, and Voice Characteristics of a Mother and Daughter with a 7;13 Translocation Affecting "FOXP2"
Quelle	In: Journal of Speech, Language, and Hearing Research, 49 (2006) 3, S.500-525 (26 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1092-4388
Schlagwörter	Case Studies; Mothers; Daughters; Speech Impairments; Genetics; Measures (Individuals); Suprasegmentals; Articulation (Speech); Hypothesis Testing; Error Analysis (Language); Phonetic Transcription; Adults; Comparative Analysis; Speech Language Pathology; Communication Disorders + Suchen Sie Ihr Suchwort? Case study; Fallstudie; Case Study; Mother; Mutter; Daughter; Tochter; Speech impairment; Speech handicap; Speech handicaps; Language handicps; Language impairments; Sprachbehinderung; Humangenetik; Messdaten; Hypothesenprüfung; Hypothesentest; Error analysis; Language; Fehleranalyse; Lautschrift; Kommunikationsstörung
Abstract	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 variable 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. (Contains 7 tables and 4 figures.) (Author).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10