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Welcome to the Angelman Syndrome
Association of Australia
The Australian Angelman Syndrome Association
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.
Current National President
The current National President of the
ASA is Anne Funke.
Email:
amfmcon@bigpond.com
Click
here for a list
of the state Vice Presidents, Committee
Members and contact details.
Click
here
for the Angelman New Zealand - Conference Report
(March 6-8, 2009)
Read about the
latest research on AS by Dr. Weeber and
his visit to Australia in July
The 9th Biennial
National Angelman
Syndrome Conference in
Perth WA
Western Australia is hosting the 9th
Biennial National Conference this year.
Our aim is raise sufficient funds to cover
the cost of the conference to allow us to
cover the expenses of guest speakers,
medical professionals, para-medical and
educational presenters. The most
recent developments on research are
presented at the conferences and the 100+
families who attend from all over Australia
and New Zealand benefit from the formal
presentations and informal networking.
Click here for
more information. Check the
WA website regularly for any changes.
Please donate. All donations over $2 are tax
deductable. Donations will go to helping
raise much needed funds for the WA
Conference in 2009.
Latest Update: Click
here to read the Preliminary Conference
Programme.
Please click
here to
print and fill out the Expression of
Interest/Intention to Attend Form
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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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