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The syndrome is caused by a genetic defect on chromosome 15 (prevalence 1:15.000-1:20.000). The syndrome is named after the English paediatrician Dr. Harry Angelman, who in 1965 was the first to describe the syndrome clinically. On average 3-4 children with Angelman syndrome are born in Denmark each year.
The most common cause of the genetic defect is a deletion on the maternal part of chromosome 15 (70%). The deletion means that a part of the chromosome is missing.
Angelman syndrome may also arise as a consequence of:
Early symptoms of Angelman syndrome include (it should be emphasised that the individual Angelman person very rarely will present with all symptoms):
Later symptoms include (again any one individual very rarely will present with all symptoms):
The positive aspects include:
The Danish Angelman Association was founded in 1995 by parents with children with Angelman Syndrome. Sixty families with Angelman persons of all ages are members of the association.
Individual persons, families or associations and institutions may become members. The annual member fee is DKK 200,-.
The Danish Angelman Association establishes contact between families with Angelman Syndrome, and each year invites persons with Angelman syndrome and their family to attend weekends and seminars. The Danish Angelman Association gives priority to activities for all family members and for professionals.
The Danish Angelman Association obtains and distributes information of relevance to our member families, and therefore interacts with persons, authorities and institutions with a knowledge and experience which may benefit persons with Angelman syndrome.
For additional information: www.angelmanforening.dk
The homepage of the Danish Angelman Association – with information on the syndrome, reports, pictures, helping aids, internet links.
Tlf.: 40 31 75 97