PraderWilliAngelmanszindrómák

Prader-Willi-Angelman syndrome, often abbreviated as PWS-AS, is a complex and rare genetic disorder resulting from a small deletion on chromosome 15. This deletion affects genes that are crucial for proper brain development. The syndrome presents with a unique combination of intellectual disability, motor deficits, and behavioral challenges. Individuals with PWS-AS typically experience significant developmental delays from infancy, including poor muscle tone (hypotonia), feeding difficulties, and delayed milestones.

As children grow, they often develop compulsive behaviors, including excessive eating and a constant preoccupation with food, leading to obesity if not managed. Behavioral issues such as temper tantrums, obsessive-compulsive tendencies, and self-injurious behaviors are also common. Learning disabilities range from mild to severe, and many individuals require specialized educational support. Motor skills can be affected by hypotonia and coordination difficulties.

The genetic cause involves a loss of function in genes that are typically inherited from the father (in Prader-Willi syndrome) or the mother (in Angelman syndrome). While the initial description often separates PWS and AS, the shared chromosomal region and overlapping features in some cases have led to the term PWS-AS to describe this specific deletion syndrome. Diagnosis is confirmed through genetic testing. There is no cure for PWS-AS, but comprehensive management involving medical, therapeutic, and educational interventions can significantly improve the quality of life for affected individuals and their families. Early diagnosis and intervention are key to addressing the diverse needs associated with this syndrome.