This program of investigation focuses on the genetics of Specific Language Impairment. We investigate longitudinal behavioral language phenotypes within a multi-gene developmental model involving a complex interaction of genetics, developmental brain changes, and overlapping phenotypes that intertwine throughout childhood with enduring individual differences in performance levels. Three previous award cycles have generated an empirical archive of proband and family data that is unique for the detailed documentation of longitudinal growth patterns across multiple indices of language, non-word repetition, reading, and speech sound acquisition. The archive previews a consistent picture for children with SLI of delayed onset of language, lower language levels that persist through adolescence, parallel growth trajectories to unaffected children although at lower levels of performance, and grammatical limitations out of sync with other dimensions of language although also following the growth trajectories of unaffected children. Family members show an elevated rate of affectedness. Co-morbidity of language and reading impairments is evident in affected children. Candidate gene linkage analyses suggest differential gene influences for language, speech, and reading impairments. In the proposed award cycle we will address some of the challenges inherent in these early genetic investigations of SLI. One is that current methods of phenotyping collapse across age levels, thereby obscuring potential developmental effects. The second is that the linguistic indicators are either relatively narrowly defined or broadly defined by omnibus language tests, making it difficult to interpret the ways in which particular genetic effects would impact the emerging linguistic system. The third is that sample sizes yield low power for detection of potential gene interactions. In the proposed award cycle our specific aims are: (1) Compile a behavioral database of probands, controls, and family members to be used for developing growth phenotypes in language, reading, speech, and non-word repetition. (2) To investigate the relationships among grammatical markers, vocabulary, omnibus language test, verbal memory, reading and nonverbal intelligence measures in children with SLI and controls and how the relationships change over time. (3) Carry out molecular genetic analyses. The results will document growth trajectories of affected and unaffected children, to provide a longitudinal perspective on the outcomes of SLI;will clarify the nature of the language phenotype(s) and relationships with related abilities;and will identify potential genes of influence for the developmental trajectories across dimensions of language, reading and non-word repetition. The results would have implications for the development of clinical interventions that are benchmarked to onset of language, expected rates of change, and expected associations of language outcomes with reading, non-word repetition, nonverbal intelligence, and mother's education.

Public Health Relevance

Children with Specific Language Impairment (SLI) do not outgrow early delays in language acquisition and there are indications that the cause is genetic in origin. This program of investigation documents language growth as a phenotype for genetics analyses, to identify possible genetic contributions to language acquisition and language impairments, as well as reading and speech sound disorders (SSD). The results would improve interventions by documenting the need for long-term intervention and identifying when particular dimensions of language, speech and reading are most likely to improve.

National Institute of Health (NIH)
National Institute on Deafness and Other Communication Disorders (NIDCD)
Research Project (R01)
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Language and Communication Study Section (LCOM)
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Cooper, Judith
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University of Kansas Lawrence
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United States
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Ash, Andrea C; Rice, Mabel L; Redmond, Sean M (2014) Effect of language context on ratings of shy and unsociable behaviors in English language learner children. Lang Speech Hear Serv Sch 45:52-66
Rice, Mabel L (2013) Language growth and genetics of specific language impairment. Int J Speech Lang Pathol 15:223-33
Rice, Mabel L; Zeldow, Bret; Siberry, George K et al. (2013) Evaluation of risk for late language emergence after in utero antiretroviral drug exposure in HIV-exposed uninfected infants. Pediatr Infect Dis J 32:e406-13
Torre 3rd, Peter; Zeldow, Bret; Hoffman, Howard J et al. (2012) Hearing loss in perinatally HIV-infected and HIV-exposed but uninfected children and adolescents. Pediatr Infect Dis J 31:835-41
Steinmetz, Adam B; Rice, Mabel L (2010) Cerebellar-dependent delay eyeblink conditioning in adolescents with Specific Language Impairment. J Neurodev Disord 2:243-251
Rice, Mabel L; Smolik, Filip; Perpich, Denise et al. (2010) Mean length of utterance levels in 6-month intervals for children 3 to 9 years with and without language impairments. J Speech Lang Hear Res 53:333-49
Rice, Mabel L; Hoffman, Lesa; Wexler, Ken (2009) Judgments of omitted BE and DO in questions as extended finiteness clinical markers of specific language impairment (SLI) to 15 years: a study of growth and asymptote. J Speech Lang Hear Res 52:1417-33
Rice, Mabel L; Taylor, Catherine L; Zubrick, Stephen R (2008) Language outcomes of 7-year-old children with or without a history of late language emergence at 24 months. J Speech Lang Hear Res 51:394-407
Paradis, Johanne; Rice, Mabel L; Crago, Martha et al. (2008) The Acquisition of Tense in English: Distinguishing child second language from first language and specific language impairment. Appl Psycholinguist 29:689-722
Smith, Shelley D (2007) Genes, language development, and language disorders. Ment Retard Dev Disabil Res Rev 13:96-105

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