Angelman Syndrome

Diagnosis is based on symptoms and possibly genetic testing. Most babies with Angelman syndrome don’t show signs or symptoms at birth. The first signs of Angelman syndrome are usually developmental delays, such as lack of crawling or babbling, between 6 and 12 months. Seizures often begin when a child is between 2 and 3 years old. Developmental delays, such as the lack of crawling or babbling, and intellectual disability, speech impairment, lack or minimal use of words, inability to walk, move or balance well (Ataxia), behavioral uniqueness, short attention span are all a part of this syndrome. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are also common. Most affected children have difficulty sleeping and need less sleep than usual. With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as “coarse.” Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (Scoliosis). The life expectancy of people with this condition appears to be nearly normal.