AGATA MALTESE1, MARGHERITA SALERNO2, GABRIELE TRIPI3,4, PALMIRA ROMANO5, ANNACLAUDIA RICCIARDI5, ANNABELLADI FOLCO1, TERESA DI FILIPPO1, LUCIA PARISI1
1Department of Psychological, Pedagogical and Educational Sciences, University of Palermo, Italy - 2Sciences for Mother and Child Health Promotion, University of Palermo, Italy - 3Department PROSAMI, University of Palermo, Italy - 4Childhood Psychiatric Service for Neurodevelopmental Disorders, CH Chinon, France - 5Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health and Physical and Preventive Medicine; Università degli Studi della Campania “Luigi Vanvitelli”, Italy
Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients’ features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.
Angelman syndrome, behavioural abnormalities, mental retardation, UBE3A, EEG abnormalities