Angelman syndrome patient management: 5 years of clinical experience
-
Magdalena Budisteanu
,
Sorina Mihaela Papuc
Abstract
Angelman syndrome (AS) is a genetic condition characterized by severe mental retardation, ataxic gait, severe speech delay, dysmorphic features, abnormal behavior, and movement disorder. It is caused by a variety of genetic mechanisms that all interfere with the expression of the UBE3A gene on chromosome 15q11-13. The management of AS patients is complex and involves a multidisciplinary approach. Here, we present our experience in the diagnosis and treatment of children with AS.
This work was supported by the following grants: CNCSIS project 1203, PN project 09330203, and PN II project 42-130.
Conflict of interest statement
Authors’ conflict of interest disclosure: The authors stated that there are no conflicts of interest regarding the publication of this article.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
References
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©2013 by Walter de Gruyter Berlin Boston
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- Severity of symptomatology and subtypes in ADHD children with comorbid oppositional defiant and conduct disorders
- Comparison between neurological examination and computerized test of attention for suspected ADHD: implications for assessment of a common childhood disability
- Effectiveness of a participative community singing program to improve health behaviors and increase physical activity in Australian Aboriginal and Torres Strait Islander people
- Improving Aboriginal and Torres Strait Islander Australians’ well-being using participatory community singing approach
- Participatory community singing program to enhance quality of life and social and emotional well-being in Aboriginal and Torres Strait Islander Australians with chronic diseases
- The disability gap in happiness across welfare regimes
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