Neuropsychiatric and behavioral aspects of trisomy 21

Down syndrome (DS), or trisomy 21, is the most common identifiable genetic cause of mental retardation. The syndrome is unique with respect to its cognitive, behavioral, and psychiatric profiles. The well-known cheerful and friendly demeanor often creates a personality stereotype, with parents and observers commenting on the positive attributes. Despite these strengths, approximately 20% to 40% of children with DS have recognized behavioral problems. Such problems persist through adulthood, with a decrease in externalizing symptoms of aggressiveness and attention problems and the emergence of internalizing symptoms of depression and loneliness. In adulthood, the presence of early-onset dementia of the Alzheimer type and cognitive decline may pose a challenge in recognizing these internalizing symptoms. Understanding the age-related changes in cognitive functioning and behavioral profiles in individuals with DS provides insight into clinical and treatment implications.