Angels Without Voices

Angelman Syndrome (AS) is a rare genetic condition first identified in the mid 1960’s by a British doctor called Harry Angelman, from whom it also gained its name. AS affects parts of the nervous system, particularly the brain. The condition affects both boys and girls.

AS has an estimated incidence of approximately 1 in 20,000. As testing continues to improve, new cases are being identified all of the time and older children and young adults are now being diagnosed retrospectively.

AS can also be caused by a number of genetic mutations and genetic imprinting defects. In most cases it is spontaneous, with no hereditary factor. People with AS have a normal life expectancy.

A person with the condition, normally diagnosed around the ages of 2-3 typically exhibits global development delay, feeding problems, unusual jerky limb movement, a lack of sleep, poor sleep patterns, along with a profound severe learning and physical difficulties. However they usually have a happy demeanor, are prone to easy laughter, and are very sociable and loving.

• Many also have childhood epilepsy and/or scoliosis.
• Many will learn to walk but with AS nothing is guaranteed
• A person with AS will require lifelong care

The characteristics used for diagnostic criteria are listed below:
Consistent (100%)

1. Developmental delay, functionally severe
2. Speech impairment, no or minimal use of words, receptive and non-verbal communication skills higher than verbal ones
3. Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
4. Behavioural uniqueness: any combination of frequent laughter/smiling; apparent happy demeanour; easily excitable personality, often with hand flapping movements; hypermotoric behaviour; short attention span

ASSERT (Angelman Syndrome Support, Education and Resarch Trust)
Registered No: 1021822

ASSERT Trustee’s are all relatives of children with Angelman Syndrome. We have set ourselves the objective’s below

• To produce a regular newsletter
• To provide an information pack for doctors to give to families of those newly diagnosed with AS;
• To maintain a 24 hour, seven day a week telephone support line;
• To forge links with similar AS organisations overseas;
• To hold regional meetings in different locations throughout the year;
• To establish a national register of families indicating those willing to be a point of contact for families of those newly diagnosed with AS;
• To fund research into Angelman Syndrome;
• To raise public awareness of Angelman Syndrome by means of articles for journals and magazines.

All monies raised from this event will go to ASSERT to help them continue to provide the essential services offered freely to families affected by Angelman Syndrome.

ASSERT are a registered charity run by families for families directly affected by the condition, and rely solely on donations and sponsored fundraising.

It costs nothing for families to join ASSERT and to date they have around 500 UK families registered as members.