Journal article
Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation Affecting FOXP2
Journal of speech, language, and hearing research, Vol.49(3), pp.500-525
06/2006
DOI: 10.1044/1092-4388(2006/038)
PMID: 16787893
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.
Details
- Title: Subtitle
- Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation Affecting FOXP2
- Creators
- Lawrence D Shriberg - University of Wisconsin—MadisonKirrie J Ballard - University of Iowa, Iowa CityJ. Bruce Tomblin - University of Iowa, Iowa CityJoseph R Duffy - Mayo Clinic, Rochester, MNKatharine H Odell - Meriter Hospital, MadisonCharles A Williams - University of Florida, Gainesville
- Resource Type
- Journal article
- Publication Details
- Journal of speech, language, and hearing research, Vol.49(3), pp.500-525
- DOI
- 10.1044/1092-4388(2006/038)
- PMID
- 16787893
- ISSN
- 1092-4388
- eISSN
- 1558-9102
- Language
- English
- Date published
- 06/2006
- Academic Unit
- Communication Sciences and Disorders; Iowa Neuroscience Institute
- Record Identifier
- 9984071983102771
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