Angelman Syndrome is a rare genetic disorder that affects the nervous system, causing severe developmental delays and intellectual disabilities. It is estimated to occur in approximately 1 in every 12,000 to 20,000 individuals.
The prevalence of Angelman Syndrome varies across different populations and geographic regions. It affects both males and females equally. The syndrome is typically caused by a deletion or mutation in the UBE3A gene on chromosome 15, which leads to the absence or dysfunction of the UBE3A protein.
Although Angelman Syndrome is considered rare, it is important to note that accurate prevalence rates can be challenging to determine due to misdiagnosis or underdiagnosis. The syndrome is often characterized by distinct behavioral and physical features, including a happy demeanor, frequent laughter, developmental delays, speech impairments, and motor coordination difficulties.
Early intervention and supportive care can greatly improve the quality of life for individuals with Angelman Syndrome. Ongoing research and advancements in genetic testing techniques contribute to a better understanding of the disorder and potential future treatments.