Optimizing health care for individuals with Down syndrome in Israel.

BACKGROUND: Down syndrome is one of the most common chromosomal abnormalities. Children and adults with DS have significant medical problems and require life-long medical follow-up.

OBJECTIVES: To determine the adequacy of medical surveillance of individuals with DS as recommended by the American Academy of Pediatrics.

METHODS: The study was conducted at a multidisciplinary center specializing in the care of DS during the period 2004-2006. At their first visit to the Center, caregivers of individuals with DS were questioned about the medical status of their child including previous evaluations. Medical records brought in by the parents were reviewed.

RESULTS: The caregivers of 150 individuals with DS (age ranging from newborn to 48-years-old, median age 5 years) were interviewed and the medical records were reviewed. The prevalence of specific medical problems differed between our population and the reported prevalence from other surveys. For example, 39.3% of our population had documented auditory deficits while the reported prevalence is 75%. For gastrointestinal and thyroid disease, the prevalence was higher in the studied population than that reported in the literature. In terms of compliance with the AAP recommendations, most children (94%) underwent echocardiography, but only 42.7% and 63.3% had been tested for auditory or visual acuity respectively. Only 36.3% over the age of 3 years had cervical spine films.

DISCUSSION: Many individuals with DS are not receiving appropriate medical follow-up and the consequences of inadequate surveillance can be serious.