Affiliation:
1. University of Wisconsin—Madison
2. University of Iowa, Iowa City
3. Mayo Clinic, Rochester, MN
4. Meriter Hospital, Madison
5. University of Florida, Gainesville
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.
Publisher
American Speech Language Hearing Association
Subject
Speech and Hearing,Linguistics and Language,Language and Linguistics
Cited by
109 articles.
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