Abstract

This project will examine the familial and genetic basis of developmental phonology disorders, the most prevalent group of communication disorders in children. Behavioral and molecular genetic techniques will be used to differentiate clinically based phenotypes of developmental phonology disorders, including phonology disorders in isolation, phonology disorders that are comorbid with other language disorders, and developmental apraxia of speech. A large cohort of sib pairs, N=500, ascertained through a proband with a phonology disorder, will be examined on measures of phonology, expressive and receptive language, speech, and reading. Data analysis, including segregation analyses, will examine family resemblance, sibling correlations, and heritability. Model-free approaches to genetic linkage analysis based upon sibling pairs will be used to evaluate candidate genes that have been associated with phonological processing abilities in studies of reading. Gender differences in phenotypes and modes of transmission of phonology disorders will be examined. Longitudinal follow-up of individuals with histories of preschool phonology disorders will provide data on adolescent outcomes for speech, language, reading, spelling and writing abilities. The overall aim of the project is to improve understanding of genetic basis, behavioral phenotypes, and developmental outcomes of phonology disorders.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Research Project (R01)
Project #
5R01DC000528-13
Application #
6489523
Study Section
Human Development and Aging Subcommittee 3 (HUD)
Program Officer
Cooper, Judith
Project Start
1999-01-01
Project End
2003-12-31
Budget Start
2002-01-01
Budget End
2002-12-31
Support Year
13
Fiscal Year
2002
Total Cost
$433,428
Indirect Cost

  Institution

Name
Case Western Reserve University
Department
Pediatrics
Type
Schools of Medicine
DUNS #
077758407
City
Cleveland
State
OH
Country
United States
Zip Code
44106

  Publications

Lewis, Barbara A; Freebairn, Lisa; Tag, Jessica et al. (2018) Heritability and longitudinal outcomes of spelling skills in individuals with histories of early speech and language disorders. Learn Individ Differ 65:1-11
Lewis, Barbara A; Patton, Emily; Freebairn, Lisa et al. (2016) Psychosocial co-morbidities in adolescents and adults with histories of communication disorders. J Commun Disord 61:60-70
Eicher, J D; Stein, C M; Deng, F et al. (2015) The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains. Genes Brain Behav 14:377-85
Lewis, Barbara A; Freebairn, Lisa; Tag, Jessica et al. (2015) Adolescent outcomes of children with early speech sound disorders with and without language impairment. Am J Speech Lang Pathol 24:150-63
Stein, Catherine M; Truitt, Barbara; Deng, Fenghua et al. (2014) Association between AVPR1A, DRD2, and ASPM and endophenotypes of communication disorders. Psychiatr Genet 24:191-200
Skebo, Crysten M; Lewis, Barbara A; Freebairn, Lisa A et al. (2013) Reading skills of students with speech sound disorders at three stages of literacy development. Lang Speech Hear Serv Sch 44:360-73
Shriberg, Lawrence D; Lohmeier, Heather L; Strand, Edythe A et al. (2012) Encoding, memory, and transcoding deficits in Childhood Apraxia of Speech. Clin Linguist Phon 26:445-82
Anthoni, Heidi; Sucheston, Lara E; Lewis, Barbara A et al. (2012) The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. Behav Genet 42:509-27
Lewis, Barbara A; Short, Elizabeth J; Iyengar, Sudha K et al. (2012) Speech-Sound Disorders and Attention-Deficit/Hyperactivity Disorder Symptoms. Top Lang Disord 32:247-263
Lewis, Barbara A; Avrich, Allison A; Freebairn, Lisa A et al. (2011) Subtyping Children With Speech Sound Disorders by Endophenotypes. Top Lang Disord 31:112-127

Showing the most recent 10 out of 18 publications