| Adults with Rubinstein-Taybi syndrome. | |
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MedLine Citation:
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PMID: 21671385 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Information in the medical literature regarding adults with genetic syndromes is limited, making the care of these patients challenging. We conducted a questionnaire study of adults with Rubinstein-Taybi syndrome that addressed medical problems, education, independence, and behavior. The most common medical problems included short stature, obesity, visual difficulties, keloids, eating problems, spine curvature, and joint problems. The adults had typically moderate mental retardation, but most achieved some independence in self-care and communication; many participated in supported work situations. However, approximately one-third were said to have some decreased abilities over time. Behavior problems were common and often worsened with age. Very few of the study participants were seeing a geneticist as an adult. Long-term involvement of geneticists and education of adult primary care providers may help with many of the challenges facing adults with RTS and their families. © 2011 Wiley-Liss, Inc. |
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Authors:
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Cathy A Stevens; Jill Pouncey; Darcy Knowles |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-6-10 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-6-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee. cathy.stevens@erlanger.org. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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