Literacy Outcomes of Children With Early Childhood Speech Sound Disorders: Impact of Endophenotypes PurposeTo demonstrate that early childhood speech sound disorders (SSD) and later school-age reading, written expression, and spelling skills are influenced by shared endophenotypes that may be in part genetic.MethodChildren with SSD and their siblings were assessed at early childhood (ages 4–6 years) and followed at school age (7–12 years). The ... Article
Article  |   December 01, 2011
Literacy Outcomes of Children With Early Childhood Speech Sound Disorders: Impact of Endophenotypes
 
Author Affiliations & Notes
  • Barbara A. Lewis
    Case Western Reserve University, Cleveland, OH
  • Allison A. Avrich
    Case Western Reserve University, Cleveland, OH
  • Lisa A. Freebairn
    Case Western Reserve University, Cleveland, OH
  • Amy J. Hansen
    Case Western Reserve University, Cleveland, OH
  • Lara E. Sucheston
    State University of New York, University at Buffalo
  • Iris Kuo
    Case Western Reserve University, Cleveland, OH
  • H. Gerry Taylor
    Case Western Reserve University, Cleveland, OH
  • Sudha K. Iyengar
    Case Western Reserve University, Cleveland, OH
  • Catherine M. Stein
    Case Western Reserve University, Cleveland, OH
  • Correspondence to Barbara A. Lewis: bxl@case.edu
  • Editor: Janna Oetting
    Editor: Janna Oetting×
  • Associate Editor: Susan Rvachew
    Associate Editor: Susan Rvachew×
Article Information
Development / Speech, Voice & Prosodic Disorders / Special Populations / Genetic & Congenital Disorders / Psychogenic Disorders / School-Based Settings / Normal Language Processing / Attention, Memory & Executive Functions / Speech, Voice & Prosody / Language
Article   |   December 01, 2011
Literacy Outcomes of Children With Early Childhood Speech Sound Disorders: Impact of Endophenotypes
Journal of Speech, Language, and Hearing Research, December 2011, Vol. 54, 1628-1643. doi:10.1044/1092-4388(2011/10-0124)
History: Received May 10, 2010 , Revised December 7, 2010 , Accepted April 18, 2011
 
Journal of Speech, Language, and Hearing Research, December 2011, Vol. 54, 1628-1643. doi:10.1044/1092-4388(2011/10-0124)
History: Received May 10, 2010; Revised December 7, 2010; Accepted April 18, 2011
Web of Science® Times Cited: 17

PurposeTo demonstrate that early childhood speech sound disorders (SSD) and later school-age reading, written expression, and spelling skills are influenced by shared endophenotypes that may be in part genetic.

MethodChildren with SSD and their siblings were assessed at early childhood (ages 4–6 years) and followed at school age (7–12 years). The relationship of shared endophenotypes with early childhood SSD and school-age outcomes and the shared genetic influences on these outcomes were examined.

ResultsStructural equation modeling demonstrated that oral motor skills, phonological awareness, phonological memory, vocabulary, and speeded naming have varying influences on reading decoding, spelling, spoken language, and written expression at school age. Genetic linkage studies demonstrated linkage for reading, spelling, and written expression measures to regions on chromosomes 1, 3, 6, and 15 that were previously linked to oral motor skills, articulation, phonological memory, and vocabulary at early childhood testing.

ConclusionsEndophenotypes predict school-age literacy outcomes over and above that predicted by clinical diagnoses of SSD or language impairment. Findings suggest that these shared endophenotypes and common genetic influences affect early childhood SSD and later school-age reading, spelling, spoken language, and written expression skills.

Acknowledgments
This research was supported by National Institute on Deafness and Other Communication Disorders Grant DC00528, awarded to Barbara A. Lewis, and National Center for Research Resources Grant KL2RR024990, awarded to Catherine M. Stein. Some of the results of this research were obtained using the program package S.A.G.E., which is supported by U.S. Public Health Service Resource Grant RR03655 from the National Center for Research Resources.
We wish to express our appreciation to the speech-language pathologists who assisted us in recruiting subjects and to the families who generously agreed to participate.
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