This project builds on a previous five year study that documented the familial basis of developmental phonology disorders (NIDCDS Grant No. DC00528). The present project will further refine the phenotype for developmental phonology disorders by examining its co-morbidity and phenotypic boundaries with language disorders and reading disorders. Various patterns of transmission, heritability, recurrent risks, and gender differences will be explored for each subtype. Preschool predictors, including family history school age outcome will be examined. Subjects include probands with a documented preschool phonology disorders, probands with a reading disorder, siblings of each proband group and parents of probands. Affection status for each individual will be determined by direct testing employing the measures developed in our previous study. This test battery assesses the domains of phonology, language, reading, spelling, written language, and intelligence. Multivariate analyses will examine different profiles of skills for each subgroup. Segregation analyses, employing the computer program POINTER, will test various models of transmission of the disorder. Family history as a predictor of school-age outcome will be explored. This study will provide insight into the causal basis for the largest group of speech and language disorders observed in children, developmental phonology disorders. By identifying subtypes of phonology disorders and their developmental course, improved understanding of phonetic, phonological, prosodic and language processes will result. Preschool predictors of later reading and spelling problems will allow more accurate prognoses, diagnoses, and long term educational planning.

National Institute of Health (NIH)
National Institute on Deafness and Other Communication Disorders (NIDCD)
Research Project (R01)
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Human Development and Aging Subcommittee 3 (HUD)
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Case Western Reserve University
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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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