Abstract
Angelman syndrome (AS) is a rare neurogenetic and neurodevelopmental condition that was first described by the English pediatrician, Harry Angelman MD (1915–1996). Diagnostic criteria notes that those with AS have severe developmental delay, significant speech dysfunction, impaired balance or movement, and features of an apparent happy countenance. There is mutation or abnormal expression in the ubiquitin ligase gene, UBE3A, found at 15q11.2. Comprehensive management includes careful attention to developmental delay and seizure control. As the science of gene therapy improves, more specific treatment of Angelman syndrome is expected as the twenty-first century continues and hopefully will answer the optimism portrayed in the emoticon of persons with Angelman syndrome.
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Greydanus, D.E., Pratt, H.D., Pryson, M. (2016). Angelman Syndrome. In: Rubin, I.L., Merrick, J., Greydanus, D.E., Patel, D.R. (eds) Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. Springer, Cham. https://doi.org/10.1007/978-3-319-18096-0_68
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DOI: https://doi.org/10.1007/978-3-319-18096-0_68
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