ANGELMAN

SYNDROME
BY HANNAH STROOT

Angelman syndrome is a genetic disorder that results in

developmental and neurological problems.

CAUSE

Chromosome
Deletion

Imprinting Center
Defect

Is it an autosomal dominant gene? No

Is it an autosomal recessive gene? Yes
Is it a sex-linked gene? No
Is it nondisjunction? No
Is it inherited in some other way?
The disease, Angelman Syndrome, can be
genetically inherited. However, close to 75% of
UBE3A
those with Angelman Syndrome have no family
history of the disease. The genetic mutations that causeMutation
AS are random incidents
for the most part. The known causes of AS are:
Chromosome Deletion-68%
UBE3A Mutation-13%
Imprinting Center Defect-6%
Paternal Uniparental Disomy (UPD)-3%
All of the listed mutations involve your maternally inherited chromosome in some
way. This is because in your brain, the gene for AS is chiefly expressed from the
maternal chromosome in the pair.
How does a healthy gene(s) differ from an afflicted gene? A healthy gene would
include one chromosome from our mother and one from our father. Both
chromosomes would contain an ACCURATE q12 band. An afflicted gene would have
any of the various problems shown in the diagrams above.
Which chromosome(s) is/are affected? Chromosome 15, Band q12

Paternal
Uniparental
Disomy
Healthy
Gene

FACTS ABOUT THE DISEASE

1. How often does this occur in the population?
The exact occurrence of Angelman Syndrome among children
and young adults is unknown, but its estimated to be
somewhere between 1/10,000 and 1/20,000. This information is
based on a Danish and Swedish study, as well as one conducted
by the Buckley newspaper.

The likelihood of someone contracting this disease is very

slim.

FACTS ABOUT THE DISEASE

2. Is it more frequent among men or women?
Angelman syndrome is found relatively equally
in both men and women. The symptoms are
also the same across the board.

FACTS ABOUT THE DISEASE

3. Is it more common in a particular ethnicity?
There have been many reported cases of
Angelman Syndrome in people from various
ethnic backgrounds. Ethnicity does not have
an effect on ones susceptibility for the
disease.

FACTS ABOUT THE DISEASE

4. Does this disorder affect a
particular age bracket?
Most patients with AS are diagnosed at a
young age. However, the disease stays
with them their whole life and therefore
affects people of all ages. As most
patients get older their symptoms
improve, i.e., sleeping becomes easier
and the amount of seizures drops
drastically.

SYMPTOMS/AFFECT ON THE
BODY
5. What are the symptoms of an individual with this
condition?
difficulty speaking
trouble balancing and walking
problems sleeping
seizures
a delay in development
infants may not be able to support their own weight (hold their

head up, walk, etc.)

lack of cooing and babbling in infants

short attention span

Many patients with this disease have a very exciting, optimistic

personality. They are constantly smiling and laughing.

TESTING AND SCREENING

6. What kinds of tests can determine whether a person

has this disorder or not?

Standard Chromosome Analysis or Cytogenetics Analysis-These tests look for obvious differences

(chromosome structure, large deletions, rearrangements, duplications, etc.)

The DNA methylation test-This test identifies about 80% of those with Angelman Syndrome by

identifying patterns of methylation, a chemical tag.

The FISH (fluorescent in situ hybridization) test-The FISH test figures out if any part is missing from

chromosome 15.

PCR (polymerase chain reaction) test-A PCR works by taking blood samples from not only the

patient, but their parents as well. These samples allow doctors to determine if the individual has
either two copies of chromosome 15 from their father(UPD) or the correct number of chromosomes
from each parent, but inaccurate methylation(ICD).

UBE3A Sequencing-This type of testing looks for mutations in DNA sequences that could have

caused AS in the patient.

Clinical Diagnosis-Individuals who have received negative results in the above tests, but still appear

to have AS can be diagnosed by an experienced clinician. Whatever's causing the individual to

experience AS symptoms will remain unknown to the patient and their family, until there is more
research about the UBE3A gene and its affects.

Differential Diagnosis-Someone who has had negative test results thus far may not have Angelman

Syndrome. This is when a differential diagnosis comes into play. It will help distinguish one disease
from others that may have similar symptoms.

TESTING
AND
SCREENING
6. (cont.)
Standard Chromosome Analysis or
Cytogenetics Analysis
-a karyotype is created for this
type of testing

DNA methylation test

UBE3A

TREATMENT
7. What types of treatments are available for
individuals with this disorder?
There is currently no cure for Angelman syndrome. The treatment offered is
solely for helping an individual deal with the symptoms associated with the
disease.
Some of the treatment options include:
Anti-seizure medication-limits and controls seizures
Physical therapy-assists AS patients with walking and moving
Communication therapy-sign language, picture communication
Behavior therapy-helps patients cope with hyperactivity, short attention

span and can even aid in the individuals development

TREATMENT
8. Is this disease life-ending?
Angelman Syndrome is not a fatal disease. In fact,
patients suffering from this disease have nearly the
same life expectancy as those without the disease.
However, its important to keep in mind that even
though the disease itself wont kill you, some of the
associated symptoms will, i.e., seizures.

OTHER INTERESTING FACTS

A common facial feature of people with Angelman

Syndrome is prognathism (when ones jaw is projected

really far forward). In other words, people with AS
tend to have a prominent chin.

Around 20% of people with Angelman Syndrome dont suffer

from any seizures AT ALL.

Its often hard to recognize the disease in infants because the

majority of the developmental issues are not yet present. This

is unfortunate considering that the earlier a patient is
diagnosed the more effective the treatment is.

Angelman syndrome is NOT a regressive disorder. Most kids

have the ability to catch up with their peers. However, in order

to achieve this, the kids will require coaching, counseling and
perhaps most importantly, time.

BIBLIOGRAPHY

"Genetic Mechanisms of Angelman Syndrome." - Angelman Syndrome Foundation, Inc., Research, Genetic
Counseling, Diagnosis, Seizures, Angelmans Syndrome Association. N.p., n.d. Web. 29 Nov. 2015.
http://www.angelman.org/understanding-as/medical-info/genetic-mechanisms-of-angelman-syndrome/
"Angelman Syndrome." - Mayo Clinic. N.p., n.d. Web. 29 Nov. 2015.
http://www.mayoclinic.org/diseases-conditions/angelman-syndrome/basics/definition/con-20033404
"Angelman Syndrome." Genetics Home Reference. N.p., n.d. Web. 29 Nov. 2015.
http://ghr.nlm.nih.gov/condition/angelman-syndrome
"What Is Angelman Syndrome?" News-Medical.net. N.p., 19 Nov. 2009. Web. 29 Nov. 2015
http://www.news-medical.net/health/What-is-Angelman-Syndrome.aspx
"Genetic Testing for Angelman Syndrome 101." Foundation for Angelman Syndrome Therapeutics. N.p., n.d.
Web. 29 Nov. 2015.
http://www.cureangelman.org/what-testing101.html
Roggenbuck, Jennifer; Carson-Dewitt Rosalyn, Rosalyn Carson-DeWitt, and "Angelman Syndrome." A
Dictionary of Nursing. 2008. "Angelman Syndrome." Encyclopedia.com. HighBeam Research, 01 Jan. 2005.
Web. 29 Nov. 2015.
http://www.encyclopedia.com/topic/Angelman_syndrome.aspx
"Angelman Syndrome - Drugs.com." Angelman Syndrome - Drugs.com. N.p., n.d. Web. 29 Nov. 2015.
http://www.drugs.com/mcd/angelman-syndrome
"5 Interesting Facts About Angelman Syndrome - HRFnd." HRFnd. N.p., 21 Dec. 2014. Web. 29 Nov. 2015.

THE
END