Neuropsychiatric Disease and Treatment
Open access peer-reviewed scientific and medical journals.
Dove Medical Press is now a member of the Open Access Initiative
An Author's Guide
A guide to help authors get their paper published.
Support Open Access and Dove Press
Promotional Article Monitoring - further details
Favored Author Program
Real benefits for authors, including fast-track processing of papers.
Behavior and neuropsychiatric manifestations in Angelman syndrome
(8209) Total Article Views
Authors: Karine Pelc, Guy Cheron, Bernard Dan
Published Date June 2008
Volume 2008:4(3) Pages 577 - 584
Karine Pelc1, Guy Cheron2, Bernard Dan1,2
1Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium; 2Laboratory of Neurophysiology and Movement Biomechanics, Université Libre de Bruxelles (ULB), Brussels, Belgium
Abstract: Angelman syndrome has been suggested as a disease model of neurogenetic developmental condition with a specific behavioral phenotype. It is due to lack of expression of the UBE3A gene, an imprinted gene located on chromosome 15q. Here we review the main features of this phenotype, characterized by happy demeanor with prominent smiling, poorly specific laughing and general exuberance, associated with hypermotor behavior, stereotypies, and reduced behavioral adaptive skills despite proactive social contact. All these phenotypic characteristics are currently difficult to quantify and have been subject to some differences in interpretation. For example, prevalence of autistic disorder is still debated. Many of these features may occur in other syndromic or nonsyndromic forms of severe intellectual disability, but their combination, with particularly prominent laughter and smiling may be specific of Angelman syndrome. Management of problematic behaviors is primarily based on behavioral approaches, though psychoactive medication (eg, neuroleptics or antidepressants) may be required.
Keywords: Angelman syndrome, UBE3A, chromosome 15, behavioral phenotypes, autism, neurogenetics
Cannotea Citeulike Del.icio.us Facebook LinkedIn Twitter
Readers of this article also read:
"I was impressed at the rapidity of publication from submission to final acceptance." Dr Edwin Thrower, PhD, Yale University.
- Aggressive behavior, cognitive impairment, and depressive symptoms in elderly subjects
- Critical appraisal of the role of davunetide in the treatment of progressive supranuclear palsy
- Long-term treatment of bipolar disorder with a radioelectric asymmetric conveyor
- Role of nucleus accumbens glutamatergic plasticity in drug addiction