Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems. Gastrointestinal, orthopedic, and eye problems also are often present.
Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6-12 months.
Seizures often begin between 2-3 years of age and occur in 80-85 percent of those with AS. Features that help define the syndrome include very happy demeanor with frequent laughter, poor balance, tremor, and minimal to no speech.
The disorder results from the absence of the UBE3A gene inherited from the mother. The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system.
Fair. Most individuals with Angelman syndrome will have significant developmental delays, speech limitations, and motor difficulties, but they understand much of what is said and often learn to communicate non-verbally and by using communication devices. T
Symptomatic and supportive