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.
Maltese, A., Salerno, M., Tripi, G., Romano, P., Ricciardi, A., Folco, A., et al. (2017). The angelman syndrome: A brief review. ACTA MEDICA MEDITERRANEA, 33(4), 667-673 [10.19193/0393-6384_2017_4_100].
The angelman syndrome: A brief review
MALTESE, Agata;SALERNO, Margherita;TRIPI, Gabriele;DI FILIPPO, Teresa;PARISI, Lucia
2017-01-01
Abstract
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.
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