Gourt > Health > Conditions and Diseases > Neurological Disorders > Movement Disorders > Angelman Syndrome
Angelman syndrome (AS) is a neurological disorder in which severe learning difficulties are associated with a characteristic facial appearance and behavior. An older, alternative term for this syndrome, happy puppet syndrome, is generally considered pejorative and stigmatizing and is no longer in current use.
History
Dr. Harry Angelman, a pediatrician working in Warrington, Cheshire, first reported three children with this condition in 1965. It was initially presumed to be rare. In 1987, it was first noted that around half of the children with Angelman syndrome have a small piece of chromosome 15 missing chromosome 15q partial deletion. Since this time the condition has been reported more frequently and the incidence is now thought to be 1 in 25,000 children.
Pathophysiology
Angelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. Other causes include uniparental disomy, translocation, or single gene mutation in that region. A healthy person receives two copies of chromosome 15, one from mother, the other from father. However, in the region of the chromosome that is critical for Angelman syndrome, the maternal and paternal contribution express certain genes very differently. This is due to sex-related epigenetic imprinting; the biochemical mechanism is DNA methylation. If the maternal contribution is lost or mutated, the result is Angelman syndrome. (When the paternal contribution is lost, by similar mechanisms, the result is Prader-Willi syndrome.) More on [ Angelman syndrome ]
An Angels World - Information, links to other sites and personal accounts of living with Angelman syndrome. Includes a research paper on the subject written by the parent of an Angel.
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Angel Down Under - Australian couple chronicles their experience raising a child with Angelman Syndrome. Mailing list. General information.
Angelman Syndrome - Information, mailing list, photo gallery and links. Dutch version also.
Angelman Syndrome - Angelman Syndrome information links.
Meta Description: [ Angelman Syndrome information links - add your link! ]
Angelman Syndrome - Information for Families and Professionals - Information and links to other resources on Angelman Syndrome.
Meta Description: [ Angelman Syndrome for Families and Professionals ]
Angelman Syndrome - MCW HealthLink - This syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities.
Meta Description: [ Angelman syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities. ]
Angelman Syndrome Association Australia - Information from the Australian Angelman Syndrome Association.
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Angelman Syndrome Foundation USA - Information for doctors and families. Research, activities and groups.
Arizona Angelman Syndrome - Support and networking for Arizona families with AS children.
ASSERT - Angelman Syndrome Support Education and Research Trust - Support for families with a member with Angelman Syndrome in the UK. Newsletters and links to other AS sites.
GeneClinics: Angelman Syndrome - Information about Angelman Syndrome from the University of Washington, Seattle.
Molecular Analysis of Angelman Syndrome - Describes the Southern blot test used in diagnosis.
National Institute of Neurological Disorders and Stroke - Angelman Syndrome - Definition, treatments, prognosis, and research information.
Meta Description: [ Angelman syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). ]
The Angelic Anarchist - A wry look on life with a newly diagnosed toddler with Angelmans Syndrome. UK site, but with some general links, both serious and humorous.
Meta Description: [ A humourous look at life with a child with Angelman Syndrome. ]
The Angelman Project - An interactive database of videos, texts and photographs, with information for clinicians and families.
Meta Description: [ Providing video documentaries as well as articles and photographs to facilitate the diagnosis, treatment and education of individuals with rare or difficult to diagnose disorders. ]
The Family Village / Library / Angelman Syndrome - Contacts, chat rooms, personal accounts and links.
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