Condition: Angelman Syndrome

Angelman syndrome (AS) is a rare genetic neurological disorder characterized by severe developmental delays and learning disabilities; the absence or near absence of speech; an inability to coordinate voluntary movements (ataxia) and tremulous with jerky movements of the arms and legs; and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling, often at inappropriate times. Although affected individuals may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand language to understand simple commands. Additional symptoms may occur in some cases including seizures, sleep disorders and feeding difficulties. Some affected children may have distinctive facial features.

Angelman syndrome is caused by deletion of or abnormal expression of the UBE3A gene that is located on the long arm (q) of chromosome 15 (15q11-q13). In most affected individuals, Angelman syndrome appears to occur spontaneously (sporadically) for unknown reasons. However, some familial cases have been reported.

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