Conflict of Interest: Brian Skotko serves in a non-paid capacity on the Board of Directors for the not-for-profits Massachusetts Down Syndrome Congress and Band of Angels Foundation. He also serves in a non-paid capacity on the Professional Advisory Council of the not-for-profit National Down Syndrome Congress. Dr. Skotko occasionally gets remunerated from Down syndrome non-profit organizations for speaking engagements about Down syndrome. He has a sister with Down syndrome.
Article first published online: 7 FEB 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 3, pages 430–437, March 2013
How to Cite
Skotko, B. G., Davidson, E. J. and Weintraub, G. S. (2013), Contributions of a specialty clinic for children and adolescents with Down syndrome. Am. J. Med. Genet., 161: 430–437. doi: 10.1002/ajmg.a.35795
Financial disclosure: none.
How to Cite this Article: Skotko BG, Davidson EJ, Weintraub GS. 2012. Contributions of a specialty clinic for children and adolescents with Down syndrome. Am J Med Genet Part A 161A: 430–437.
- Issue published online: 21 FEB 2013
- Article first published online: 7 FEB 2013
- Manuscript Accepted: 4 NOV 2012
- Manuscript Received: 18 JUN 2012
- Down syndrome;
- ambulatory care;
- clinical practice;
- trisomy 21
We investigated what added value, if any, a Down syndrome specialty clinic brings to the healthcare needs of children and adolescents with Down syndrome. For this quality improvement study, we performed a retrospective chart review of 105 new patients with Down syndrome, ages 3 and older, seen during the inaugural year of our specialty clinic. We asked how many of our patients were already up-to-date on the healthcare screenings recommended for people with Down syndrome. We further analyzed what tests we ordered, which referrals we suggested, and, ultimately, what new diagnoses of co-occurring medical conditions were made. Only 9.8% of our patients were current on all of the recommended Down syndrome healthcare screenings. Parents came to clinic with a variety of concerns, and after laboratory tests, radiologic studies, and subspecialty referrals, we made many new diagnoses of gastrointestinal conditions (e.g., constipation and celiac disease), seasonal allergies, dermatologic conditions (e.g., xerosis), behavioral diagnoses (e.g., autism spectrum disorder and disruptive behavior not otherwise specified), and clarifications of neurologic conditions. A Down syndrome specialty clinic can identify and address many healthcare needs of children and adolescents with Down syndrome beyond that which is provided in primary care settings. © 2013 Wiley Periodicals, Inc.