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Welcome to the Angelman Syndrome Association AustraliaGive Now (ASAA)

The Australian Angelman Syndrome Association Australia was founded on March 20,1993 at a meeting held at the St. George Hospital, Kogarah, NSW. The meeting was organised by a group of three interested parents, two leading medical professionals and fourteen families attended.

During the meeting, plans were made for the first National Conference to be held later that same year, on October 30 and 31 in Sydney. More than 100 parents and professionals attended the conference from all over Australia. As a result, a National Association was formed with representatives from each State and Territory. The Association has blossomed since that time, mainly through the hard work of dedicated parents of children with AS and with the guidance of medical professionals.

Click here for a list of the state Vice Presidents, Committee Members and contact details.
Click here to download and read our latest Brochure

Fundraiser for Angelman Syndrome
On 16th May, Lions Club of Greenacre in conjunction with Rocket Signs, will be holding a fundraiser for Angelman Syndrome.  The fund raiser will be held at Greenacre Bowling Club NSW and will be a Starz Entertainment Night, with raffles, sponsored chocolate wheel, etc., (I will supply more information as we are still in the planning stages).  Club and Starz have been booked, some sponsors have been contacted, and we are holding a Committee Meeting next weekend (14 or 15 March), as I am going overseas from 26th March, return 22nd April, and would like to have the majority of the arrangements in place before I go. Contact: Jill Thayer - jc.thayer@yahoo.com.au 

Understanding Challenging Behaviours in Angelman Syndrome
Some of you may be interested that Professor Chris Oliver , UK specialist in Challenging behaviours is coming to Melbourne in May to present on this topic. Although he is coming at the invitation of the CriDuChat syndrome Association, his specialty is also behaviour in AS so families/carers of people with other syndromes are welcome. Please see attached link for booking details and more information.

UBE3A Testing in Australia
For the first time in Australia, testing for the UBE3A gene sequencing is now available through the Mater Health Services Pathology in Brisbane, Queensland. This is a fee-for-service testing. Please refer to your Geneticist / Paediatrician to order this test.

Information for Paediatricians/Geneticists/Laboratories:
Queries regarding the UBE3A gene sequencing can be directed the following contacts at the Department of Pathology, Mater Health Services Brisbane:

Dr David M. Cowley FRCPA, FHGSA,
Director of Chemical Pathology
Mr Ivan McGown MHGSA,
Supervising Scientist, Molecular Genetic
Telephone: 07 3163 8500

The Better Start Programme
From 1 January 2013, children who are aged under 6 years and have been diagnosed with Prader Willi, Williams, Angelman, Kabuki Make Up, Smith-Magenis, CHARGE, Cornelia de Lange or Cri du Chat syndromes or microcephaly will be able to register to access early intervention funding of up to $12,000 (up to a maximum of $6,000 per financial year) under the Better Start for Children with Disability (Better Start) initiative.
Download full document here

NDISNDIS - National Disability Insurance Scheme
All Australians need a no-fault insurance scheme for everyone who has, or acquires, a significant disability. A National Disability Insurance Scheme (NDIS) would be a landmark social and economic reform, transforming the lives of Australians with disabilities and their families..... Visit Website

FAST - Foundation for Angelman Syndrome Therapeutics
The Foundation for Angelman Syndrome Therapeutics (or FAST) is an organization of families and professionals dedicated to finding a cure for Angelman Syndrome and related disorders through the funding of an aggressive research agenda, education, and advocacy. The Foundation is committed to assisting individuals living with Angelman Syndrome to realize their full potential and quality of life..... Visit Website


About Angelman Syndrome (AS)
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as Angelman Syndrome (AS). He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published but the condition was considered to be extremely rare and many physicians doubted its existence. The first reports from North America appeared in the early 1980s and within the last ten years many new reports have appeared. Dr. Angelman relates the following regarding his discovery of this syndrome.

The History
"The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelman Syndrome is one such story. It was purely by chance that nearly thirty years ago three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities and although, at first sight, they seemed to be suffering from different conditions, I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because, in spite of technical investigations which today are more refined, I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy I happened to see an oil painting in the Castelvecchio museum in Verona called . . . a Boy with a Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children. It was not a name that pleased all parents but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome. This article was published in 1965, and after some initial interest, lay almost forgotten until the early eighties."

At Birth
Angelman syndrome is usually not recognized at birth or in infancy since the developmental problems are nonspecific during this time. Parents may first suspect the diagnosis after reading about AS or meeting a child with the condition. The most common age of diagnosis is between three and seven years when the characteristic behaviors and features become most evident. A summary of the developmental and physical findings has recently been published for the purpose of establishing clinical criteria for the diagnosis and these are listed below. All of the features do not need to be present for the diagnosis to be made, and the diagnosis is often first suspected when the typical behaviors are recognized.

The Time Line
For several decades the chromosome study of AS individuals revealed no abnormalities, but with the development of improved methods a very small deleted area was found in chromosome 15. Molecular methods such as FISH (fluorescence in situ hybridization) now demonstrate a deletion in about 70% of individuals with AS. The deleted area, although extremely small, is actually quite large when viewed at the molecular level. It is believed to be about 4 million base pairs in length, enough to contain many genes.

Other Deletions
The deleted region on chromosome 15 is known to contain genes that are activated or inactivated depending upon the chromosome's parent of origin (i.e., a gene may be turned on on the chromosome 15 inherited from the mother but off on the chromosome 15 inherited from the father). This parent-specific gene activation is referred to as genetic imprinting. Because the deletions seen in AS only occur on the chromosome 15 inherited from the mother, the gene(s) responsible for AS were predicted to be active only on the maternal chromosome 15. Disruption of genes that are active on the paternally-derived chromosome 15 is now known to cause another developmental disorder termed the Prader-Willi syndrome (PWS).

Other Syndromes
The PWS gene(s) are actually located close to the AS gene, but they are different. AS has been reported throughout the world among divergent racial groups. In North America, the great majority of known cases seem to be of Caucasian origin. Although the exact incidence of AS is unknown, an estimate of between 1 in 15,000 to 1 in 30,000 seems reasonable.

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