| Abstract [eng] |
Background. Angelman syndrome is a neurological developmental disorder that causes severe functional and behavioral impairments. The prevalence of the disease worldwide ranges from approximately 1 in 12 000 to 1 in 20 000 individuals. Angelman syndrome can be caused by various genetic mechanisms related to the genomic imprinting process. Although this syndrome is rare, it is important to understand the causes, symptoms, diagnosis, and treatment of the disease in order to provide appropriate care to individuals with Angelman syndrome and information to their families. Aim. To conduct a literature review on Angelman syndrome, focusing on its’ etiology, diagnostics, and treatment options. Methods. A literature review was conducted on the PubMed and Clinical Key databases, using the keywords: “Angelman syndrome”, “UBE3A”, “deletion of 15q11–q13”, “epilepsy”. Articles published in the last 10 years in English were selected for the analysis. Results. Angelman syndrome can be caused by one of six identified etiological mechanisms, most commonly - maternal deletion of 15q11-q13 chromosome. However, in cases where the mechanism is not identified and genetic test results are negative negative, diagnosis can be made based on clinical signs and criteria. The clinical manifestation of the syndrome is diverse, typically showing speech, movement, sleep disorders, hyperactive and happy demeanor, seizures and microcephaly. Treatment for Angelman syndrome is symptomatic, including management of epilepsy, sleep disorders, and behavioral therapy. Conclusions. With appropriate symptomatic treatment and various therapies, the life prognosis for individuals with Angelman syndrome can be good. Although there are currently no disease-modifying treatment methods, in the future, more specific treatments for Angelman syndrome are expected. |
