A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome

• Type of Material: Article
• Authors: Tovi Anderson, Emory University; Allison Buterbaugh, Emory University; Kaitlin Love, Florida State University; Jeannie Visootsak, Emory University
• Language: English
• Date: 2013
• Publisher: Hindawi Publishing Corporation
• Publication Version: Final Published Version
• Copyright Statement: © 2013 Tovi Anderson et al.
• License: Creative Commons Attribution 3.0 Unported
• Final Published Version (URL): http://www.hindawi.com/journals/crig/2013/504695/
• Title of Journal or Parent Work: Case Reports in Genetics
• ISSN: 2090-6544
• Start Page: 504695
• End Page: 504695
• Grant/Funding Information: Grant sponsor: NIH/NICHD; Grant number: 1K23HD058043-01A1 (JV) Fragile X Association of Georgia (TA).
• Research Categories: Biology, Genetics; Health Sciences, Human Development

Abstract

Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly subtle, resulting in the first clinical suspicion often arising from delayed developmental milestones. In addition, maladaptive behavior and autistic-like tendencies, such as hand flapping, poor eye contact, and hand biting, may be noted in Fragile X syndrome but are not as commonly observed in Down syndrome. Recognition of a potential secondary diagnosis, such as Fragile X syndrome, in individuals with Down syndrome is critical because there have been advances in targeted pharmacologic treatments for both conditions. Thus, an accurate diagnosis has implications in improving the individual's quality of life.