Angelman Syndrome: A Complex Genetic Disorder

Overview

Angelman syndrome (AS) is a rare genetic disorder characterized by severe mental retardation, subtle dysmorphic facial features, and a unique neurodevelopmental profile.

Key Features

AS is characterized by distinct features, including:

• Severe intellectual disability
• Speech difficulties or absence of speech
• Characteristic facial features, such as a wide mouth, a broad forehead, and a thin upper lip
• Motor coordination problems, including ataxia and hypotonia
• Abnormal sleep patterns and seizures

EEG Findings

One distinguishing feature of AS is the presence of a characteristic EEG pattern known as the notched delta pattern. This pattern, marked by alternating delta and normal waves, is often observed during sleep.