Behavior and neuropsychiatric manifestations in Angelman syndrome

Karine Pelc1, Guy Cheron2, Bernard Dan1,21Department of Neurology, H&ocirc;pital Universitaire des Enfants Reine Fabiola, Universit&eacute; Libre de Bruxelles (ULB), Brussels, Belgium; 2Laboratory of Neurophysiology and Movement Biomechanics, Universit&eacute; Libre de Bruxel...

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Autores principales:	Karine Pelc, Guy Cheron, Bernard Dan
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2008
Materias:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/1e6265bf53a542989cc0026a59647150
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spelling	oai:doaj.org-article:1e6265bf53a542989cc0026a596471502021-12-02T00:31:15ZBehavior and neuropsychiatric manifestations in Angelman syndrome1176-63281178-2021https://doaj.org/article/1e6265bf53a542989cc0026a596471502008-06-01T00:00:00Zhttp://www.dovepress.com/behavior-and-neuropsychiatric-manifestations-in-angelman-syndrome-a1868https://doaj.org/toc/1176-6328https://doaj.org/toc/1178-2021Karine Pelc1, Guy Cheron2, Bernard Dan1,21Department of Neurology, H&ocirc;pital Universitaire des Enfants Reine Fabiola, Universit&eacute; Libre de Bruxelles (ULB), Brussels, Belgium; 2Laboratory of Neurophysiology and Movement Biomechanics, Universit&eacute; Libre de Bruxelles (ULB), Brussels, BelgiumAbstract: 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 Karine PelcGuy CheronBernard DanDove Medical PressarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol 2008, Iss Issue 3, Pp 577-584 (2008)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Karine Pelc Guy Cheron Bernard Dan Behavior and neuropsychiatric manifestations in Angelman syndrome
description	Karine Pelc1, Guy Cheron2, Bernard Dan1,21Department of Neurology, H&ocirc;pital Universitaire des Enfants Reine Fabiola, Universit&eacute; Libre de Bruxelles (ULB), Brussels, Belgium; 2Laboratory of Neurophysiology and Movement Biomechanics, Universit&eacute; Libre de Bruxelles (ULB), Brussels, BelgiumAbstract: 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
format	article
author	Karine Pelc Guy Cheron Bernard Dan
author_facet	Karine Pelc Guy Cheron Bernard Dan
author_sort	Karine Pelc
title	Behavior and neuropsychiatric manifestations in Angelman syndrome
title_short	Behavior and neuropsychiatric manifestations in Angelman syndrome
title_full	Behavior and neuropsychiatric manifestations in Angelman syndrome
title_fullStr	Behavior and neuropsychiatric manifestations in Angelman syndrome
title_full_unstemmed	Behavior and neuropsychiatric manifestations in Angelman syndrome
title_sort	behavior and neuropsychiatric manifestations in angelman syndrome
publisher	Dove Medical Press
publishDate	2008
url	https://doaj.org/article/1e6265bf53a542989cc0026a59647150
work_keys_str_mv	AT karinepelc behaviorandneuropsychiatricmanifestationsinangelmansyndrome AT guycheron behaviorandneuropsychiatricmanifestationsinangelmansyndrome AT bernarddan behaviorandneuropsychiatricmanifestationsinangelmansyndrome
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Behavior and neuropsychiatric manifestations in Angelman syndrome

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