Are you a Happy Puppet? Angelman Syndrome
Dr Sampurna Roy MD
Angelman syndrome is a rare and severe neurodevelopmental disorder, with a complex clinical picture.
In 1965, Harry Angelman first described this condition when he reported three children that he referred to as "Puppet Children" because of their unusual arm position and jerky movements. In addition to the characteristic movements, Angelman noted severe intellectual disability, absent speech, and bouts of inappropriate laughter.
This condition was originally known as "Happy Puppet Syndrome". It was later suggested that Angelman Syndrome was more clinically appropriate.
Angelman syndrome is caused by mutations or deletions of the maternally inherited UBE3A.
It is characterized by severe mental retardation, developmental delay, ataxia, seizures, speech impairment, and happy disposition.
It has been noted that overexpression or hyperactivation of UBE3A is associated with autism. Thus, both loss and gain of UBE3A functions result in neurodevelopmental and cognitive defects.