Contributions of a specialty clinic for children and adolescents with Down syndrome

Am J Med Genet A. 2013 Mar;161A(3):430-7. doi: 10.1002/ajmg.a.35795. Epub 2013 Feb 7.


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.

MeSH terms

  • Adolescent
  • Ambulatory Care Facilities
  • Cardiovascular Diseases / diagnosis
  • Cardiovascular Diseases / etiology
  • Child
  • Child, Preschool
  • Down Syndrome / complications
  • Down Syndrome / therapy*
  • Female
  • Humans
  • Hypothyroidism / diagnosis
  • Hypothyroidism / etiology
  • Male
  • Parents
  • Pneumonia / diagnosis
  • Pneumonia / etiology
  • Quality Improvement
  • Referral and Consultation
  • Retrospective Studies
  • Skin Diseases / diagnosis
  • Skin Diseases / etiology
  • Strabismus / diagnosis
  • Strabismus / etiology
  • Young Adult