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Delineation of 1p36 Deletion Syndrome in Adolescents and Adults

Brazil, Ashley
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1367924936

Abstract Details

2013, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: 1p36 deletion syndrome, also known as monosomy 1p36, is the most common terminal deletion syndrome, with an incidence of 1/5,000 – 1/10,000. Current literature describes 1p36 deletion syndrome in infancy through childhood; however, the progression of the disease is unclear. The purpose of this study was to further describe the progression of 1p36 deletion syndrome in adolescents and adults. Methods: A 133 item questionnaire was developed to assess baseline values of medical problems and developmental and functional problems of individuals aged 12 or older with 1p36 deletion syndrome, and participants of the survey were primary caregivers of the individuals with 1p36 deletion syndrome. Questionnaires were distributed electronically through the 1p36 Deletion Support & Awareness Group, UNIQUE, and Chromosome Disorder Outreach, Inc., and via mail through the Cincinnati Children's Hospital Medical Center cohort. Results: 38 surveys (n=11 males, n=29 females) were completed, and two additional surveys (1 male, 1 female) were mostly completed and were thus included in analysis. Among the medical problems reported, 78% of individuals had a history of seizures, with 42% of these individuals currently having seizures; additionally, 65% of individuals were currently hypotonic. 35% of individuals were reported to have strabismus, and 38% had myopia. Hearing loss, acquired cardiovascular complications, and no occurrences of cancer were also reported. Among developmental and functional problems, 43% of patients were able to talk, and the majority (71%) could use over 100 words; additionally 62% of individuals used sign language as their sole form of communication. 82% of males and 79% of females with 1p36 deletion syndrome were reported to walk independently. Individuals were also reported to receive the majority of their nutrition orally, have some speech problem diagnoses, some pubertal development, and behavioral concerns. Conclusions: We have corroborated some of the same medical concerns in adolescents and adults with 1p36 deletion syndrome, yet we also have identified that as individuals with 1p36 deletion syndrome age, they are able to achieve many milestones including walking and talking to a greater degree than is reflected in the previous studies. Constant monitoring for lifelong health concerns such as seizures is imperative; however, the long-term prognosis for these patients is promising. We show with proper medical care and support, individuals with 1p36 deletion syndrome appear to make significant developmental progress as well as achieve a level of independence.
Robert Hopkin, M.D. (Committee Chair)
Teresa Smolarek, Ph.D. (Committee Member)
Kevin Stanford, M.S. (Committee Member)
37 p.
Genetics
1p36 deletion syndrome; monosomy 1p36; progression; 1p36-1pter deletion; 1pter deletion; chromosome 1 deletion;

Recommended Citations

Citations

  • Brazil, A. (2013). Delineation of 1p36 Deletion Syndrome in Adolescents and Adults [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1367924936

    APA Style (7th edition)

  • Brazil, Ashley. Delineation of 1p36 Deletion Syndrome in Adolescents and Adults. 2013. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1367924936.

    MLA Style (8th edition)

  • Brazil, Ashley. "Delineation of 1p36 Deletion Syndrome in Adolescents and Adults." Master's thesis, University of Cincinnati, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1367924936

    Chicago Manual of Style (17th edition)

ucin1367924936
437
© 2013, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.