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About Angelman Syndrome

Did you know that...

Angels have curly hair, an enchanted look, a remarkable kindness and affection for others, a contagious smile, a constant positive demeanour, they are non-verbal, innocent, carefree and simple, they are often awake at night as they are day. Our children have Angelman Syndrome*. Individuals who have this Syndrome are affectionately called Angels. Angels display all of the endearing characteristics mentioned above. They sometimes have a lack of pigmentation, resulting in a pale completion and blonde hair. Their “surplus” of enthusiastic good humour is an infectious characteristic of this syndrome, often resulting in contagious laughter! Angels can be hyperactive, can have sleep disturbances and are often fascinated by water. Typically, Angels are late to start walking and can have an unstable gait when walking. Although Angels do not speak, they have excellent non-verbal communication skills. Individuals who have Angelman Syndrome have a moderate to severe intellectual disability.

It is therefore very important to sensitize the medical community, educators, and the public at large about this syndrome. It would then become possible to develop the appropriate medical tools, techniques and treatments to both diagnose and treat this often misdiagnosed syndrome.

Angelman Syndrome is a genetic disorder that severely impacts one’s neurological development. Harry Angelman, a British pediatrician, was the first to describe the symptoms in 1965; however, the first clear diagnosis was only made in 1987. Medical professional have since further identified that the traits consistent with Angelman Syndrome are: a significant intellectual and motor delay, the absence of language (sometimes 1-3 words), a generally good comprehension, a positive demeanour and laughter, abnormal EEG results as well as hyperactivity (limited attention span, hand flapping, easily excitable). The majority of children who have Angelman Syndrome have epilepsy, microcephaly, sleeping disturbances and frequent difficulties with eating.

The research that has been conducted on children who have Angelman Syndrome has identified effective methods in educating, responding to behavioral and medical needs in terms of communication, sleep disturbances, motor capacity, overall skills and managing epilepsy. Individuals who have Angelman Syndrome continue to learn and develop throughout their lives!
 

*The Syndrome was also sometimes referred to as “Pantin Hilare and Happy Puppet” (Marionette Joyeuse in French). Current figures reflect that 1 in 12,000 to 15 000 people have Angelman Syndrome. More and more, the diagnosis is given to young children due to recent awareness from the medical community about Angelman Syndrome and its characteristics.