Angelman Syndrome
Keywords:
Angelman Syndrome, treatment, epigeneticsAbstract
Introduction: Angelman Syndrome is a rare inherited neurodevelopmental disorder that affects 1 in 10,000 to 24,000 newborns. This condition includes developmental desability, intellectual disability, severe speech disability, movement and balance problems (ataxia), seizures and very small head. People with Angelman Syndrome always seem to be in a good mood and smile a lot.
Objective: to systematize knowledge about the characteristics of Angelman Syndrome, clinical and genetic aspects of the disease and current treatment strategies.
Method: a bibliographic review was carried out at the Universidad Regional Autónoma de Los Andes, by searching in national and international databases such as PubMed, Scopus, SciELO, Web of Science and Google Scholar. For the investigation a search strategy was used. Forty-five articles were found, of which 15 were selected for this review.
Results: a synthesized text was elaborated where aspects such as etiology, diagnosis, main clinical symptoms and treatment of this genetic disorder were addressed.
Conclusions: due to its nature of clinical needs that are not met in terms of the motor area, communication, sleep and behavior, Angelman syndrome makes it necessary for nursing professionals to develop an action plan that allows an early diagnosis and develop a plan specific care for the individual and the intimate environment of action to respond to the needs on demand.
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References
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