The Language Phenotype of Children and Adolescents With Noonan Syndrome PurposeThis study presents an analysis of language skills in individuals with Noonan syndrome (NS), an autosomal dominant genetic disorder. We investigated whether the language impairments affecting some individuals arise from deficits specifically within the linguistic system or whether they are associated with cognitive, perceptual, and motor factors. Comparisons of language ... Article
Article  |   August 01, 2010
The Language Phenotype of Children and Adolescents With Noonan Syndrome
 
Author Affiliations & Notes
  • Elizabeth I. Pierpont
    University of Wisconsin—Madison
  • Susan Ellis Weismer
    University of Wisconsin—Madison
  • Amy E. Roberts
    Children’s Hospital Boston, MA
  • Erica Tworog-Dube
    Brigham and Women’s Hospital, Boston, MA
  • Mary Ella Pierpont
    Children’s Hospitals and Clinics of Minnesota, Minneapolis and St. Paul, and University of Minnesota, Minneapolis
  • Nancy J. Mendelsohn
    Children’s Hospitals and Clinics of Minnesota, Minneapolis and St. Paul, and University of Minnesota, Minneapolis
  • Mark S. Seidenberg
    University of Wisconsin—Madison
  • Contact author: Elizabeth I. Pierpont, Department of Psychology, University of Wisconsin—Madison, 1202 West Johnson Street, Madison, WI 53706. E-mail: eipierpont@wisc.edu.
Article Information
Development / Special Populations / Genetic & Congenital Disorders / Language Disorders / Attention, Memory & Executive Functions / Language
Article   |   August 01, 2010
The Language Phenotype of Children and Adolescents With Noonan Syndrome
Journal of Speech, Language, and Hearing Research, August 2010, Vol. 53, 917-932. doi:10.1044/1092-4388(2009/09-0046)
History: Received March 4, 2009 , Accepted October 8, 2009
 
Journal of Speech, Language, and Hearing Research, August 2010, Vol. 53, 917-932. doi:10.1044/1092-4388(2009/09-0046)
History: Received March 4, 2009; Accepted October 8, 2009
Web of Science® Times Cited: 10

PurposeThis study presents an analysis of language skills in individuals with Noonan syndrome (NS), an autosomal dominant genetic disorder. We investigated whether the language impairments affecting some individuals arise from deficits specifically within the linguistic system or whether they are associated with cognitive, perceptual, and motor factors. Comparisons of language abilities among the different NS genotypes were also conducted.

MethodSixty-six children and adolescents with NS were evaluated using standardized speech, language, and literacy assessments. Additional cognitive, perceptual, and motor tasks were administered to examine the relation of these factors to language development. Genotype was noted for those who underwent genetic testing.

ResultsLanguage impairments were more frequent in NS than in the general population and were associated with higher risk for reading and spelling difficulties. Language was significantly correlated with nonverbal cognition, hearing ability, articulation, motor dexterity, and phonological memory. Genotype analyses suggest that the higher performance of SOS1-positive than PTPN11-positive individuals on language tasks was largely mediated by differences in cognitive ability.

ConclusionsOur results indicate that variation in language skill in NS is closely related to cognitive, perceptual, and motor factors. It does not appear that specific aspects of language are selectively affected in this syndrome.

Acknowledgments
This work was supported by the 2007 Jeanette Anderson Hoffman Memorial Wisconsin Distinguished Graduate Fellowship award to the first author and by National Institutes of Health Grant T32 DC005459-07, “Interdisciplinary Research Training in Speech-Language Pathology” (Susan Ellis Weismer, Principal Investigator). This project was also funded, in part, by Grant UL1 RR025758-01 from the National Center for Research Resources, National Institutes of Health, to the Harvard Catalyst Clinical & Translational Science Center. We thank Andrea Nett and Rebecca Rozek for their valuable assistance in our research efforts as well as Richard Pauli, David Wargowski, and Jody Haun at the Waisman Center (Madison, Wisconsin) for their aid in recruiting participants. We express our gratitude to all of the families that participated in this research and to the Noonan Syndrome Support Group.
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