Behavioral Phenotypes of Individuals with Genetic Syndromes

Individuals with Prader-Willi syndrome, Down syndrome, and Williams syndrome have etiology-specific characteristics that present unique social service challenges. For example, most individuals with Prader-Willi syndrome show hyperphagia (extreme over-eating) obsessions-compulsions, and temper tantrums; most persons with Down syndrome are prone to the brain "plaques and tangles" of Alzheimer's Disease by age 35; and most children and adults with Williams syndrome show extreme anxiety. In addition to these difficulties, individuals with Prader-Willi syndrome are often especially proficient in jigsaw and word-search puzzles, whereas those with Williams syndrome show a deeply rooted love and affinity for music, in some cases with exceptoinal musical abilities.

Our research program examines a wide range of behavioral, neuropsychological, pharmacological, family, parenting, and other characteristics of individuals with these three disorders. In studies, we have characterized the changes with age during adulthood of extreme psychopathology in some individuals with Down syndrome. In Prader-Willi syndrome, we are examining the connections between strategy use and jigsaw puzzle playing abilities, as well as whether SRI drug responses are related to whether one has a specific (non-Prader-Willi) genetic variant. In Williams syndrome, we are examining how music is perceived in the brain, with the idea that, in this particular syndrome, the music and emotion centers are more closely connected. In all three syndromes, parent and family functioning is also being examined. In addition to scientific advances and better understandings of "gene-brain-behavior" relations, these studies also promise to further our understandings of which particular intervention and leisure activities might be most beneficial in which particular groups.

Contact

Elisabeth Dykens, Ph.D., (615) 322-8242