Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation AffectingFOXP2
- 1 June 2006
- journal article
- research article
- Published by American Speech Language Hearing Association in Journal of Speech, Language, and Hearing Research
- Vol. 49 (3), 500-525
- https://doi.org/10.1044/1092-4388(2006/038)
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.Keywords
This publication has 54 references indexed in Scilit:
- Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2American Journal of Medical Genetics Part A, 2006
- Dissection of molecular mechanisms underlying speech and language disordersApplied Psycholinguistics, 2005
- Pleiotropic Effects of a Chromosome 3 Locus on Speech-Sound Disorder and ReadingAmerican Journal of Human Genetics, 2004
- DECIPHERING THE GENETIC BASIS OF SPEECH AND LANGUAGE DISORDERSAnnual Review of Neuroscience, 2003
- Prosody-voice characteristics of children and adults with apraxia of speechClinical Linguistics & Phonetics, 2001
- Acoustic phenotypes for speech-genetics studies: an acoustic marker for residual /з/ distortionsClinical Linguistics & Phonetics, 2001
- Understanding the nature of apraxia of speech: Theory, analysis, and treatmentAphasiology, 2000
- Developmental apraxia of speech: Determiners of differential diagnosisClinical Linguistics & Phonetics, 1998
- Word‐finding difficulties, verbal paraphasias, and verbal dyspraxia in ten individuals with fragile x syndromeAmerican Journal of Medical Genetics, 1995