Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation Affecting FOXP2 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 ... Article/Report
Article/Report  |   June 2006
Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation Affecting FOXP2
 
Author Affiliations & Notes
  • Lawrence D. Shriberg
    University of Wisconsin—Madison
  • Kirrie J. Ballard
    University of Iowa, Iowa City
  • Joseph R. Duffy
    Mayo Clinic, Rochester, MN
  • Katharine H. Odell
    Meriter Hospital, Madison
  • Charles A. Williams
    University of Florida, Gainesville
  • Contact author: Lawrence D. Shriberg, Room 439, Waisman Research Center, University of Wisconsin—Madison, 1500 Highland Avenue, Madison, WI 53705. Email: shriberg@waisman.wisc.edu
  • © 2006 American Speech-Language-Hearing Association
Article Information
Speech, Voice & Prosodic Disorders / Apraxia of Speech & Childhood Apraxia of Speech / Speech, Voice & Prosody / Language
Article/Report   |   June 2006
Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation Affecting FOXP2
Journal of Speech, Language, and Hearing Research, June 2006, Vol. 49, 500-525. doi:10.1044/1092-4388(2006/038)
History: Received March 24, 2005 , Revised July 13, 2005 , Accepted October 13, 2005
 
Journal of Speech, Language, and Hearing Research, June 2006, Vol. 49, 500-525. doi:10.1044/1092-4388(2006/038)
History: Received March 24, 2005; Revised July 13, 2005; Accepted October 13, 2005
Web of Science® Times Cited: 70

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.

Acknowledgments
This research was supported by National Institute on Deafness and Other Communicative Disorders Grants DC00496, DC02746, and DC005698 and by National Institute of Child Health and Development Core Grant HD03352 to the Waisman Research Center.
We thank the following colleagues for their important contributions to this project: Connie Ferguson, Valerie Flemmer, Sheryl Hall, Yunjung Kim, Jeffrey Murray, Marlea O’Brien, Shivanand Patil, Alison Scheer, Vanesa Shaw, Christie Tilkens, and David Wilson. We are also grateful to Heather Karlsson, Heather Lohmeier, Jane McSweeny, and Sonja Wilson for their expert technical assistance with data analysis and manuscript preparation.
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