Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.

Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Research Abstract Details 

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Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Abstract Text:

Lawrence D Shriberg,Kirrie J Ballard,J Bruce Tomblin,Joseph R Duffy,Katharine H Odell,Charles A Williams,

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.

Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Publishing Authors By Initials

LD Shriberg,KJ Ballard,JB Tomblin,JR Duffy,KH Odell,CA Williams,

For similar circulatory and respiratory physiology: respiratory physiology: respiratory physiologic phenomena: voice research abstracts see: circulatory and respiratory physiology: respiratory physiology: respiratory physiologic phenomena: voice research

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Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Journal of speech, language, and hearing research

VOLUME: 49

Page Numbers: 500-25

Journal Abbreviation: J. Speech Lang. Hear. Res.

ISSN: 1092-4388

DAY: 3

MONTH: Jun

YEAR: 2006

Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Information

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LANGUAGE: eng

NlmUniqueID: 9705610

Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Keywords Mesh Terms:

KEYWORDS: Voice

MESH TERMS: genetics

Chemical & Substance for Abstract: Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Information

Substance Name: Forkhead Transcription Factors

Registry Number: 0

Grant and Affiliation Information for Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.

AFFILIATION: Waisman Research Center, University of Wisconsin--Madison, 53705, USA. shriberg@waisman.wisc.edu

Country: United States

AGENCY: United States NICHD

GRANT: HD03352

ACRONYM: HD

MEDLINETA: J Speech Lang Hear Res

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