Speech sound disorders (SSD) are the most prevalent type of communication disorder in early childhood and often place an individual at risk for later academic difficulties. Individuals whose SSD persists past 8 years of age are at highest risk for poor long-term social-emotional, academic, and vocational outcomes. To date, there have been no large prospective studies to identify genetic, hormonal, and behavioral risk factors for persistent SSD so that children at greatest risk may be identified and treated early with interventions to prevent later adverse effects. The present proposal is a continuation of a 25 year genetic study of SSD (A Familial Study of Severe Phonology Disorders;NIDCD grant number DC000528) that has identified risk genes for SSD and co- morbid language impairment (LI) and reading disorders (RD). We found a higher prevalence of the most severe forms of SSD in males compared to females. Genes identified in our prior work regulate estrogen levels involved in early brain development, which may account for gender differences in gene expression. In the proposed project we will explore hormonal differences in children with SSD as a potential biomarker to identify children at greatest risk for persistent SSD. Predictive models for persistent SSD will be built from risk genes, hormonal biomarkers, and five behavioral endophenotypes: deficits in speech motor control, phonological memory, phonological processing, speeded naming, and vocabulary. Three hundred children with early SSD will be examined for all factors at 4-6 years of age and again at 8-10 years of age. Findings will reveal predictors of long-term problems to which individuals with early SDD are vulnerable, identify risk factors, and determine deficits to target in early interventions to insure more favorable educational, vocational, and behavioral outcomes.

Public Health Relevance

Speech sound disorders (SSD) are one of the most common types of communication disorders in children with more than half of children encountering difficulties in language, reading and spelling throughout school. Children whose speech errors persist past 7 years are most at risk for poor social-emotional, educational, and vocational outcomes. This project identifies genes, hormones, and behavioral deficits that predict persistent SSD so that early identification and early targeted interventions may prevent long term residual effects of SSD.

National Institute of Health (NIH)
National Institute on Deafness and Other Communication Disorders (NIDCD)
Research Project (R01)
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Study Section
Language and Communication Study Section (LCOM)
Program Officer
Cooper, Judith
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Case Western Reserve University
Schools of Arts and Sciences
United States
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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

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