Angelman Syndrome

Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the maternal UBE3A gene on chromosome 15q11-q13. It presents with severe intellectual disability, absent or minimal speech, ataxic gait, seizures, and characteristic behavioral phenotype including frequent laughter. Diagnosis relies on clinical features, EEG findings, and genetic testing to detect deletion or mutation in UBE3A. Management is supportive, including seizure control, physical therapy, communication aids, and behavioral interventions. Prognosis involves lifelong intellectual disability, although life expectancy is near normal with appropriate medical care.