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


METHODS
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.


CONCLUSIONS
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.
Shriberg
Lawrence D
LD
Waisman Research Center, University of Wisconsin--Madison, 53705, USA. shriberg@waisman.wisc.edu
Ballard
Kirrie J
KJ
Tomblin
J Bruce
JB
Duffy
Joseph R
JR
Odell
Katharine H
KH
Williams
Charles A
CA
D000293:Adolescent; D000368:Aged; D000369:Aged, 80 and over; D001072:Apraxias / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002882:Chromosomes, Human, Pair 13; D002897:Chromosomes, Human, Pair 7; D004401:Dysarthria / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009035:Mothers; D009679:Nuclear Family; D010700:Phonetics; D012720:Severity of Illness Index; D013061:Speech Acoustics; D013065:Speech Intelligibility; D013068:Speech Production Measurement; D014178:Translocation, Genetic; D014831:Voice
C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors