Impact of Chromosome 4p- Syndrome on Communication and Expressive Language Skills: A Preliminary Investigation Purpose The purpose of this investigation was to examine the impact of Chromosome 4p- syndrome on the communication and expressive language phenotype of a large cross-cultural population of children, adolescents, and adults. Method A large-scale survey study was conducted and a descriptive research design was used to analyze ... Research Article
Research Article  |   July 01, 2010
Impact of Chromosome 4p- Syndrome on Communication and Expressive Language Skills: A Preliminary Investigation
 
Author Affiliations & Notes
  • Althea T. Marshall
    Southern Connecticut State University, New Haven
  • Contact author: Althea T. Marshall, Southern Connecticut State University, Department of Communication Disorders, Davis Hall Room 012 L 501, Crescent Street, New Haven, CT 06515. E-mail: marshalla1@southernct.edu.
Article Information
Special Populations / Genetic & Congenital Disorders / Research Articles
Research Article   |   July 01, 2010
Impact of Chromosome 4p- Syndrome on Communication and Expressive Language Skills: A Preliminary Investigation
Language, Speech, and Hearing Services in Schools, July 2010, Vol. 41, 265-276. doi:10.1044/0161-1461(2009/08-0098)
History: Received August 25, 2008 , Revised January 11, 2009 , Accepted April 27, 2009
 
Language, Speech, and Hearing Services in Schools, July 2010, Vol. 41, 265-276. doi:10.1044/0161-1461(2009/08-0098)
History: Received August 25, 2008; Revised January 11, 2009; Accepted April 27, 2009
Web of Science® Times Cited: 6

Purpose The purpose of this investigation was to examine the impact of Chromosome 4p- syndrome on the communication and expressive language phenotype of a large cross-cultural population of children, adolescents, and adults.

Method A large-scale survey study was conducted and a descriptive research design was used to analyze quantitative and qualitative data regarding the communication and expressive language manifestations of 200 children, youth, and adults from 16 countries and Puerto Rico who had been diagnosed with 4p conditions, including Wolf-Hirschhorn syndrome (WHS), Pitt-Rogers-Danks syndrome (PRDS), Proximal 4p Deletion syndrome, and complex chromosomal rearrangements associated with 4p-.

Results Individuals with Chromosome 4p- syndrome represent a heterogeneous population with complex phenotypic profiles. The majority of the participants exhibited communication and expressive language skills below the 36-month developmental functioning level. A relatively small cohort of the study population exhibited advanced expressive language skills, a finding not reported in the professional literature.

Conclusion Results broaden the spectrum of expressive language skills associated with Chromosome 4p- syndrome and highlight the communication potential of a subset of individuals with 4p abnormalities for development of advanced language structures. It is hypothesized that the largest 4p deletion, which includes the 4p16.3 band and contiguous gene regions, results in the most severely affected expressive language phenotype.

ACKNOWLEDGMENTS
This work was supported, in small part, by a Connecticut State University research grant awarded to Glenda DeJarnette and a Southern Connecticut State University Sponsored Programs and Research grant awarded to the author. A portion of the data was previously presented at the 2007 national convention of the American Speech-Language-Hearing Association in Boston, MA. The author gratefully acknowledges the study participants and their families and care providers who generously participated in this study and gave profound meaning to the research. Sincere gratitude is also extended to Barbara Lewis and Susan Felsenfeld for their encouragement and for generously shepherding the paper to completion. The author is appreciative of feedback provided by Rhea Paul on an earlier draft of the manuscript. Special thanks to Beth Paris, who provided invaluable assistance with retrieval of the literature; Dr. Mariano Rocchi, Universita' di Bari, Italy, for granting permission to publish the chromosome 4 ideogram; and the study participant portrayed in Figure 2 and his parents for granting permission to use the photo.
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