Williams-Beuren Syndrome

Book excerpt: Williams-Beuren syndrome (WBS) is a genetic condition characterized by low IQ, cardiovascular malformations, dysmorphic facial features, and a striking pattern of behaviors, weaknesses, and strengths, such as musical and verbal abilities, extraordinary friendliness, empathy, and social grace. Because the typical psychological and cognitive profile is unique, examination of this syndrome sheds light on how the human brain is organized and how different aspects of cognition and behavior arise. Williams-Beuren Syndrome offers concise, comprehensive coverage of WBS research and its clinical implications, including its genetics and molecular biology, neurobiological and behavioral traits, and medical problems and their management. Each chapter emphasizes how research can be applied to clinical practice. The expertise of the volume editors ranges from pioneering research to personal experience: Colleen Morris played a key role in the breakthrough discovery of the missing elastin gene in patients with WBS; Howard Lenhoff is a biologist, an expert on WBS and musical pitch, and the parent of a WBS musical savant; Paul Wang is a pediatrician and cognitive researcher who works in the WBS community. Researchers and clinicians in genetics, pediatrics, and psychiatry/psychology will find in this volume a wealth of current information on WBS, as well as valuable insights into future research possibilities.