ANGELMAN SYNDROME

Morgan Tuthill
4/16/13 AM
What is Angelman Syndrome?
It is a neuro-genetic disorder that occurs in
about 1 in 12,000 20,000 births no matter
what race or nationality.
Symptoms
It causes developmental delay
Very little speech
Seizures - usually decrease as they get older
Most of the time it also requires a lifetime of long
care.

Symptoms continued
walking and balance are often off by not
being able to move easily and being clumsy.
Laughing, smiling, and over all having a
happy demeanor
Their tongue may protrude
Drool a lot and have wide spaced teeth
Abnormal sleeping patterns
Diagnosing
Usually start with the Methylation test ;
which screens for 3 of the 4 genetic
mechanisms that may cause AS.
FISH Test (Fluorescent in situ hybridization)
and the CGH Test (Comparative genomic
hybridization) are used after the Methylation
test if nothing is found or discovered.
The FISH and CGH Test only detect
chromosome deletion problem.
Diagnosing
If the Methylation test came back normal
they would then run a DNA sequencing of the
UBE3A gene. (10% of individuals with AS will
have this mutation.)

What are the genetic changes
related to AS?
The function of the gene called UBE3A is lost
A copy of this gene comes from each parent
in which both are originally active.. Which is
supposed to happen.
In parts of the brain only the maternal copy is
active which may be a factor of AS
AS is caused when a person inherits 2 copies
of chromsome 15 from either parents

Continued..
AS also may be caused by a mutation in the
maternal copy of the UBE3A gene.
Or a chromosomal rearrangement
Or even by a mutation or other defect in the
region of DNA that controls the activation of
the gene.
10-15% diagnosed individuals with AS are
unknown as to why they have it.
Can AS be inherited?
Most cases are not
The genetic changes happen as a random
event during formation of reproductive cells
or in early embryonic development.
Most affected people dont have a history of
AS in their family
History
As of now there is no known cure for AS
1965 was when AS was discovered by Dr.
Harry Angelman
He named it Happy Puppet Syndrome
because he saw a painting in Italy of a boy
with a puppet that looked happy-and the
patient all seemed happy
He ended up changing the disorder to
Angelman syndrome because many parents
didnt like Happy Puppet syndrome.
History
The first report of AS in America was in the
1980s.
Actor ; Collin Farrell
Hockey player; peter McDuffey
Baseball pro; Dave Henderson
Writer; Ian Rankin
All of these famous people have a child with AS
References
www.angelman.org/understanding-as
www.angelman.org/understanding-as/medical-info/diagnostic-
criteria/
www.angelman.org/understanding-as/medical-info/diagnostic-
testing/
http://ghr.nlm.nih.gov/condition/angelman-syndrome