Speech delay of unknown origin (SD) (Shriberg, 1980) is a risk factor for a child's literacy achievement, positive self-concept, peer acceptance, and vocational choices. The high prevalence of SD (3.8% at 6 years of age; Shriberg, Tomblin, & McSweeny, 1999) places it among the most frequently occurring childhood disorders requiring public health resources for research and long-term treatment. The present research program has developed an etiological classification system for SD that proposes to explicate the distal causes for over 90% of children referred for treatment (Shriberg & Kwiatkowski, 1994).
Specific aims for the next period of study are to cross-validate the accuracy of phenotype and diagnostic markers for each of three subtypes of SD and to describe associated speech acquisition processes. Seven large, demographically diverse databases will be used to complete six study series including data from over 2,200 children with SD. Project I: Speech-Genetics Studies. Approximately 60% of children with SD are posited to have a genetic subtype inherited as a quantitative (i.e., non-Mendelian) trait. Study Series 1 and 2 will cross-validate two perceptual and two acoustic phenotype markers for probands and family members. Study Series 3 will cross-validate prior familial aggregation findings, and Study Series 4 will explicate short-term and long-term normalization processes in this subtype of SD. Project Ih Speech-Otitis Media Studies. Approximately 30% of children with SD are posited to have histories of fluctuant hearing loss associated with recurrent otitis media with effusion. Research indicates that this proposed etiological subtype of SD is clinically under-diagnosed (i.e., false negatives). Study Series 5 will cross-validate a perceptual and an acoustic diagnostic marker for this subtype of SD. Project IIh Speech-Apraxia Studies. Approximately 1-2 children per 1000 are posited to have a subtype of SD that reflects the speech motor constraints associated with a disorder of speech praxis. Research indicates that this proposed etiological subtype of SD is clinically over-diagnosed (i.e., false positives). Study Series 6 will cross-validate two acoustic diagnostic markers for this subtype of SD.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Research Project (R01)
Project #
5R01DC000496-17
Application #
6891671
Study Section
Biobehavioral and Behavioral Processes 3 (BBBP)
Program Officer
Shekim, Lana O
Project Start
1988-07-01
Project End
2008-04-30
Budget Start
2005-05-01
Budget End
2006-04-30
Support Year
17
Fiscal Year
2005
Total Cost
$600,378
Indirect Cost
Name
University of Wisconsin Madison
Department
Pediatrics
Type
Other Domestic Higher Education
DUNS #
161202122
City
Madison
State
WI
Country
United States
Zip Code
53715
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Shriberg, Lawrence D; Strand, Edythe A; Fourakis, Marios et al. (2017) A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: IV. The Pause Marker Index. J Speech Lang Hear Res 60:S1153-S1169
Shriberg, Lawrence D; Strand, Edythe A; Fourakis, Marios et al. (2017) A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: III. Theoretical Coherence of the Pause Marker with Speech Processing Deficits in Childhood Apraxia of Speech. J Speech Lang Hear Res 60:S1135-S1152
Shriberg, Lawrence D; Strand, Edythe A; Fourakis, Marios et al. (2017) A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: II. Validity Studies of the Pause Marker. J Speech Lang Hear Res 60:S1118-S1134
Truong, D T; Shriberg, L D; Smith, S D et al. (2016) Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders. Hum Genet 135:1329-1341
Mueller, Kathryn L; Murray, Jeffrey C; Michaelson, Jacob J et al. (2016) Common Genetic Variants in FOXP2 Are Not Associated with Individual Differences in Language Development. PLoS One 11:e0152576
Evans, P D; Mueller, K L; Gamazon, E R et al. (2015) A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13. Genes Brain Behav 14:387-97
Strand, Edythe A; Duffy, Joseph R; Clark, Heather M et al. (2014) The Apraxia of Speech Rating Scale: a tool for diagnosis and description of apraxia of speech. J Commun Disord 51:43-50

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