Clinical manifestations of Angelman syndrome

Abstract

The diagnosis of genetic disorders is always difficult. Early detection of Angelman syndrome is complicated by the similarity of its clinical manifestations with other diseases. The purpose of the study was to describe the clinical manifestations in children with Angelman syndrome in order to identify early and characteristic clinical signs. In the study of patients, it was revealed that the hereditary history was aggravated in one patient, the obstetric history — in all women. Clinical manifestations debuted in children at an early age, only in one patient from birth. In all children, changes were recorded on the electroencephalogram and magnetic resonance imaging of the brain. The patients were consulted by a geneticist. Awareness of the medical community contributes to the timely detection of signs of the disease and the establishment of a diagnosis. The sooner the diagnosis is established, the higher the chances of providing the patient with effective care.