Angelman Syndrome (AS)
摘要
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by global developmental delay, movement disorders, speech and communication impairments, seizures, and unique behavioral characteristics (Margolis et al. 2015; Wheeler et al. 2017). The name of syndrome is given from the name of English physician, Harry Angelman, who introduced three patients with those manifestations for the first time in 1965. Individuals, identified as AS, present signs of developmental delay at about 6 months of age. However, unique clinical features usually are not recognized before 1 year. Prevalence of AS is approximately between 1 in 15,000 and 1 in 20,000 live births (Margolis et al. 2015; Bonello et al. 2017).