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Language Phenotypes

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Neurophenotypes

Part of the book series: Innovations in Cognitive Neuroscience ((Innovations Cogn.Neuroscience))

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Abstract

This chapter introduces language as a complex, uniquely human capacity. From birth, infants are prepared to acquire language, which then develops over time with most of the essential elements in place by the time a child enters school. The rapid acquisition of this hierarchically organized communication system is an excellent example of a biologically based cognitive system that develops over the course of time as the child interacts with rich social and nonsocial environments. But for a minority of children, despite the available and appropriate environmental contexts, speech and language development do not proceed as expected, especially in the early years. This chapter provides an overview of language phenotyping for genetics inquiry and notes that even for specific language impairment (SLI), autism spectrum disorder (ASD), and speech sound disorder (SSD), which are all highly heritable, relatively few of the estimated thousand or more risk genes have been identified. Finding the genes requires the use of valid phenotypes, which leads to a description of the PhenX project. This chapter focuses on language phenotypes that have shown significant promise in current research on developmental language disorders and that are grounded in what is known about typical language acquisition. Key speech and language measures in PhenX are described, such as the Family History Questionnaire, Onset and Early Childhood Speech and Language, Communication subscale of the Ages and Stages Questionnaire, the Speech and Language Assessment Scale, and three assessments of grammar for preschool- and school-age children. In addition, measures of vocabulary, phonemic inventory, stuttering, reading words and reading comprehension, verbal memory/nonword repetition, and other language phenotypes are described. The authors conclude that this line of research not only is important for advancing our understanding about the underlying etiology of language disorders, but also holds the potential for discovering the genetic bases of language, the most remarkable achievement of human evolution.

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Notes

  1. 1.

    The Speech and Hearing Workgroup was chaired by Cynthia Morton (Brigham and Women’s Hospital, Boston, MA) and Mabel Rice (University of Kansas). Committee researcher members were as follows: Ellen Cohn (University of Pittsburgh, Pittsburgh, PA), Dennis Drayna (National Institute on Deafness and Other Communication Disorders, Rockville, MD), Kenneth Grundfast (Boston University Medical Center, Boston, MA), and Bruce Tomblin (University of Iowa). Mary Marazita (University of Pittsburg, Pittsburgh, PA) was a liaison researcher with the Steering Committee, and Wayne Huggins, Noëlle Richa Siegfried, and Carol M. Hamilton were staff of RTI International, RTP, NC.

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Acknowledgements

The preparation of this chapter was supported by the following grants: MR: NIH P30DC005803, R01DC001803, R01DC005226, and P30HD002528; HTF: NIH RO1DC10290; P50DC13027 and RO1 DC11339 and support from the Simons Foundation.

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Authors and Affiliations

  1. Child Language Doctoral Program, University of Kansas, Lawrence, USA

    Mabel Rice

  2. Department of Psychology, Boston University, Boston, USA

    Helen Tager-Flusberg

  3. Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, USA

    Helen Tager-Flusberg

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  1. Mabel Rice
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Correspondence to Mabel Rice .

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Editors and Affiliations

  1. Communication science & Disorders/Behavioral Neuroscience , Emerson College; Boston University school of Medicine, BOSTON, Massachusetts, USA

    Vinoth Jagaroo

  2. Marine medical centre and Marine Medical Research, Chan School of Public Health , Tufts University School of medicine and Harvard TH, BOSTON, Massachusetts, USA

    Susan L. Santangelo

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Rice, M., Tager-Flusberg, H. (2016). Language Phenotypes. In: Jagaroo, V., Santangelo, S. (eds) Neurophenotypes. Innovations in Cognitive Neuroscience. Springer, Boston, MA. https://doi.org/10.1007/978-1-4614-3846-5_12

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