Williams-Beuren Syndrome

Research, Evaluation, and Treatment
Erscheinungsjahr 2006
ISBN: 978-0-8018-8212-8
Verlag: Johns Hopkins University Press

Buch, Englisch, 384 Seiten, Format (B × H): 159 mm x 236 mm, Gewicht: 645 g

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.

Autoren/Hrsg.

Morris, Colleen A

Lenhoff, Howard M

Wang, Paul P

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Medizin, Gesundheitswesen Medizin, Gesundheit: Sachbuch, Ratgeber
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik

Inhaltsverzeichnis

Foreword by John C. Carey
Preface
Contributors
I. Biomedical and Genetic Research
1. The Dysmorphology, Genetics, and Natural History of Williams-Beuren Syndrome
2. The Molecular Basis of a Multisystem Disorder
3. Genotype-Phenotype Correlations in Williams-Beuren Syndrome
4. The Medical Management of Children with Williams-Beuren Syndrome
5. Cardiovascular Disease in Williams-Beuren Syndrome
6. Evidence-Based Medical Management of Adults with Williams-Beuren Syndrome
II. Behavioral Neuroscience Research
7. The Behavioral Neuroscience of Williams-Beuren Syndrome: An overview
8. Language Abilities in Williams-Beuren Syndrome
9. Specialization, Breakdown, and Sparing in Spatial Cognition: Lessons from Williams-Beuren Syndrome
10. Social Cognition in Williams-Beuren Syndrome
11. Theoretical Implications of Studying Cognitive Development in Genetic Disorders: The Case of Williams-Beuren Syndrome
12. Psychopathology in Persons with Williams-Beuren Syndrome
13. Sleep Pattens in Williams-Beuren Syndrome
14. The Neurobiology of Williams-Beuren Syndrome
15. Absolute Pitch and Neuroplasticity in Williams-Beuren Syndrome
16. Rhythm, Timbre, and Hyperacusis in Williams-Beuren Syndrome
Index

Über Autor(innen)

Lenhoff, Howard M
Howard M. Lenhoff, Ph.D. is Professor Emeritus in the Department of Developmental and Cell Biology at the School of Biological Sciences, University of California, Irvine, and an adjunct professor at the University of Mississippi, Oxford.

Wang, Paul P
Paul P. Wang, M.D. is Director of Pfizer Global Research and Development.

Morris, Colleen A
Colleen A. Morris, M.D. is a professor and chief of the Division of Genetics in the Department of Pediatrics at the University of Nevada School of Medicine.

Colleen A. Morris, M.D. is a professor and chief of the Division of Genetics in the Department of Pediatrics at the University of Nevada School of Medicine. Howard M. Lenhoff, Ph.D. is Professor Emeritus in the Department of Developmental and Cell Biology at the School of Biological Sciences, University of California, Irvine, and an adjunct professor at the University of Mississippi, Oxford. Paul P. Wang, M.D. is Director of Pfizer Global Research and Development.