Angelman syndrome (English)

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:

  • UPD (uniparental disomy) meaning that both chromosomes 15 originate from the father (2-3%)
  • UBE3A mutation i.e. a mutation located at a specific gene on the chromosome 15 (approximately 9%)
  • A defect in a so-called imprinting centre on the chromosome 15 (2-3%)In approximately 15% of the cases no genetic explanation can be given.

Early symptoms of Angelman syndrome include (it should be emphasised that the individual Angelman person very rarely will present with all symptoms):

  • Eating disorders
  • Delayed motoric development
  • Lack of early attempts of speech
  • Reduced eye contact
  • Jerky movements
  • Abnormal EEG pattern (brain)
  • Seizures, notably in the febrile child
  • Short periods of sleep
  • Happy appearance – smiling, flapping hands when cheerful
  • Ataxia

Later symptoms include (again any one individual very rarely will present with all symptoms):

  • Flat occiput•Small circumference of head
  • Fair skin and hair (when compared with family members)
  • Putting objects in mouth
  • Drooling
  • Movement disorder
  • Lack of coordination and balance with wide-based gait
  • Impaired learning capabilities
  • Lack of speech
  • Epilepsy
  • Development of scoliosis
  • Development of shortened Achilles’ tendon
  • Wide smiling mouth
  • Twinkle in the eye

The positive aspects include:

  • All persons with Angelman syndrome are loving and sociable
  • Fond of water, swings, toys with sound effects, balloons, balls, mirrors, television and music
  • Persons with Angelman syndrome have a greater understanding than may be immediately apparent. Some learn the use of ‘Tegn til tale’, communicate with pictures (Picture Communication System, PCS) and/or talking machine
  • Some communicate with a few words
  • The sleep improves with age
  • The epilepsy may improve with age
  • Significant improvements result from an early stimulation of the learning abilities
  • A continued learning capability throughout life (when stimulated)

The Danish Angelman Association

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.

Contact person:

Jane Willemoes

Tlf.: 40 31 75 97
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