Angelman syndrome

What is it?

Angelman syndrome (AS) is a neurological disorder of genetic origin, characterized by severe mental retardation and characteristic facial dysmorphism. Its prevalence is estimated from 1 / 10,000 to 1 / 20,000.

Which are the symptoms?

Patients appear normal at birth. Eating disorders and hypotension can occur in the first 6 months of life, followed by a delay in psycho-motor development from 6 months to 2 years. Typically, the characteristic symptoms of AS appear from the first year of life with severe mental retardation, lack of speech, fits of laughter associated with stereotypical hand movements, microcephaly, macrostomy, hypoplasia of the upper jaw, prognathism and neurological disorders, with a "puppet-like" gait, ataxia and seizures associated with specific abnormalities of the electroencephalogram (EEG; three-phase delta activity with peaks in the frontal regions). Other clinical signs include a happy appearance, hyperactivity without aggression, low alertness, anxiety, sleep disturbances associated with decreased need for sleep, high sensitivity to heat, and craving for water.

Where do we treat it?

Within the San Donato Group, you can find Angelman syndrome specialists at these departments:

Are you interested in receiving the treatment?

Contact us and we will take care of you.