Behavioral & Cognitive Disorders
Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disability, epilepsy, ataxia, and a unique behavioral phenotype. It has generally been felt to result from impaired expression of the maternal allele for the UBE3A gene, which encodes ubiquitin protein ligase E3A. Primary areas of clinical management include the following: seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety.
Apr. 05, 2021