DOWN SYNDROME

Abstract

Down syndrome is the most common identifiable genetic cause of intellectual disability. The facial appearance of individuals with Down syndrome is highly characteristic and is frequently associated with other minor anomalies and malformations of other body systems, most importantly the cardiovascular and gastrointestinal systems. Individuals with Down syndrome also have an increased likelihood of a number of medical complications including those of the thyroid gland, and the gastrointestinal, upper‐respiratory, audiologic, hematological, and neurological systems. It is thus important for persons with Down syndrome to be followed in a systematic fashion and have access to appropriate specialists to anticipate, prevent, or modify potential complications. Current research continues to shed light on many behavioral and medical aspects of Down syndrome, but questions remain about the relationship between the trisomy of chromosome 21, the developmental and behavioral pattern, and the health complications.