Skip to Main Content
 

Global Search Box

 
 
 
 

Files

File List


12781.pdf (1.96 MB)

ETD Abstract Container

Abstract Header

Investigation of Speech Delay in Individuals with 1p36 Deletion Syndrome

Bac, Cassandra
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427812691

Abstract Details

2015, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: 1p36 deletion syndrome is a chromosomal terminal deletion syndrome, with a reported incidence ranging from 1/5,000-1/10,000. Current literature details a variety of severe medical and developmental problems associated with the deletion syndrome, many of which have been incompletely described. Specifically, speech impairment is considered to be almost universal among individuals with 1p36 deletion syndrome; however, there are no previous studies that clinically characterize the specific speech-language patterns and abilities within this population. The purpose of this study was to assess the communication abilities, as well as to describe the types of speech and language problems identified within this population. Methods: Speech-language evaluations designed to assess verbal impairment, intelligibility, pragmatics, feeding difficulty, hearing, receptive language, and expressive language were performed by a certified speech-language pathologist on twenty-eight individuals (aged 1-17) with 1p36 deletion syndrome. Results: 54% of participants (n=15) were verbal, specific verbal ability ranged from mildly to severely impaired. None of the participants were found to have age appropriate verbal ability. 5 participants were previously diagnosed with apraxia. Following study evaluation, 14 participants (50%) were identified as showing signs characteristic of apraxia; while only 5 (18%) demonstrated speech skills without concern for apraxia. Conclusions: Over half of our study population demonstrated verbal communication abilities, which directly contrasts with previous reports of absent expressive speech in the majority of people with 1p36 deletion syndrome. In addition, our results illustrate a high prevalence of apraxia characteristics in the speech of individuals with 1p36 deletion syndrome. This information has the potential to impact the type of treatment recommended for these individuals. Further investigation into the specific speech and language skills of individuals with this deletion syndrome is warranted with a larger patient population.
Robert Hopkin, M.D. (Committee Chair)
Ashley Brazil, M.S. (Committee Member)
John Lynn Jefferies, M.D. M.P.H. (Committee Member)
Ann Kummer, Ph.D. (Committee Member)
31 p.
Genetics
1p36 deletion syndrome; monosomy 1p36; 1p36; speech; apraxia

Recommended Citations

Citations

  • Bac, C. (2015). Investigation of Speech Delay in Individuals with 1p36 Deletion Syndrome [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427812691

    APA Style (7th edition)

  • Bac, Cassandra. Investigation of Speech Delay in Individuals with 1p36 Deletion Syndrome. 2015. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427812691.

    MLA Style (8th edition)

  • Bac, Cassandra. "Investigation of Speech Delay in Individuals with 1p36 Deletion Syndrome." Master's thesis, University of Cincinnati, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427812691

    Chicago Manual of Style (17th edition)

ucin1427812691
1,465
© 2015, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.