34 research outputs found

    Behavior and neuropsychiatric manifestations in Angelman syndrome

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    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

    The Lessons from Angelman Syndrome for Research and Management

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    info:eu-repo/semantics/publishe

    Earliest historic reference of 'tinnitus' is controversial.

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    CommentHistorical ArticleLetterinfo:eu-repo/semantics/publishe

    Angelman syndrome

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    SCOPUS: ch.binfo:eu-repo/semantics/publishe

    Postural cortical myoclonus during gait in Rett syndrome.

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    Case ReportsCommentLetterinfo:eu-repo/semantics/publishe

    What would the brain look like in Angelman syndrome?

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    Journal Articleinfo:eu-repo/semantics/publishe

    Topotécan, espoir thérapeutique dans le syndrome d’Angelman ?

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    SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Rett syndrome: clinical and genetic features

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