Angelman Syndrome

Angelman Syndrome results from the loss of function of the UBE3A gene, inherited through the maternal chromosome. This gene normally produces a protein important for regulating other proteins in nerve cells. When the maternal copy is missing or not functioning properly, the distinctive symptoms emerge. Developmental delay becomes apparent in the second half of the first year of life, with most children achieving limited or no meaningful speech. Physical characteristics may include a wide mouth, pointed chin, and fair skin and hair. The seizure disorder typically appears in the second or third year of life and can be quite resistant to treatment. Children with Angelman Syndrome often have a characteristic happy appearance with frequent smiling and laughter that can seem inappropriate to the situation. Despite their intellectual disabilities, many children develop meaningful connections with caregivers and family members. Life expectancy is generally normal or near-normal, though seizure management requires ongoing attention. Management is multidisciplinary, involving pediatric neurologists, therapists, and developmental specialists.