ANGELMAN SYNDROME

WHAT IS IT?

• Angelman Syndrome is a genitive disordor
• It is caused by mutations is the egg gametes
• It was discovered in 1965, by Dr. Harry Angelman
• Dr. Angelman noticed that 3 patients, all being treated
• for different disorders, had similar symptoms...

WHAT IS IT?

• normally connected to their respected disorders. He drafted
• a few theories, and named the disorder Happy
• Puppet Disorder, because of the puppet-like way of
• walking and excessive cheerfulness of the patients. The name
• was also influxes by this painting, belived to show a child with AS.

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• (The name of that painting is Boy with a Puppet)
• The name was later changed to Angelman Syndrome
• mainly because the name was thought derogatory.

WHAT CAUSES IT?

• Angelman Syndrome was first confused with Prader-­‐‑Willi syndrome
• This is because both are caused by a mutation in the 15th chromosome.
• The difference is, Prader-­‐‑Willi syndrome is caused by a mutation on the
• Paternaly inherited chromosomes. BUT
• Angleman syndrome is caused by a maternal chromosome mutation.

WHAT CAUSES IT?

• Angleman syndrome is caused when the maternal chromosome 15
• has something wrong with the gene UBE3A
• A small percentage of people with Angelman Syndrome
• have 2 parental chromosome 15
• The reason the causes Angelman Syndrome is because some parts

WHAT CAUSES IT?

• of the brain require the use of UBE3A, which is only found
• In the maternal chromosome 15.
• The lack of UBE3A causes the brain to act/react
• differently, in Angelman Syndrome
• The mutations of UBE3A can be deletion, UPD, ID, or Gene Point mutation

TYPES OF MUTATIONS

• Maternal Deletion: the UBE3A is deleted.
• This is the cause of about 70% of cases
• Parental UPF: when there are 2 parental chromosome 15
• This causes 2-3% of cases

TYPES OF MUTATIONS

• Inparenting defect: this means that in the egg cell, UBE3A
• was not "turned on"
• This causes about 3-5% of cases
• Mutation: UBE3A is point mutated during meiosis
• This causes 5-10% of cases

SYMPTOMES

• Hyperactivity, Excessive laughter and smiling
• Slow mental and phisical development
• Seizures, sleep disorders
• Limited vocabulary

CURE AND TREATMENT

• There is no cure currently, but FAST is working on it.
• Symptoms- such as seizures and mental developement-
• can be treated by therapy (such as medicine to prevent
• seizures, and speech therapy to improve communication

DIAGNOSIS

• When AS parents notice their child is not developing
• normally, the docter usually give the child a phisical
• exam, then a speech test. If both results point to AS
• the child will undergo a genetics test.
• This tests the levels of UBE3A in the child.

KARYOTYPE

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OTHER INTESTING FACTS

• Angelman syndrome is often shortened to AS
• Most people with AS have a Vocab of 0-10 words
• 50% of people with AS are mis-diagnosed at the
• first diagnosis because of it similarities to other
• disorders and because it is a fairly recent discovery

OTHER INTERESTING FACTS

• Feb. 15 is International Angelman Syndrome Day
• AS occurs roughly in 1/15,000 births
• People with AS are typically called "Angels"
• both because of the name of the disorder, and
• because of their generally happy attitude

RECAP

• Angelman syndrome is a chromosomal, sex linked disorder
• It occurs because of a random mutation on chromosome 15
• There is no cure, but it is being worked on, and therapy helps
• with some symptoms. Angels have a normal life span.

SOURCES

• William, Charles A., Sarika U. Peters, and Stephen N. Calculator. Facts About Angelman Syndrome.
• 7th ed. 2009. Print.
• 202009%203-19-10.pdf>.
• . angelman.org. Angelman Syndrome Foundation , n.d. Web. 11 Feb 2014.
• . cureangelman.org. Foundation for Angelman Syndrome Therapuetics, n.d. Web. 11 Feb 2014

SOURCES

• . "Angelman Syndrome." Genetics Home Reference. N.p., 01 010 2011. Web. 11 Feb 2014.
• .
• . "Angelman Syndrome." Medicine Net. Medicine Net, n.d. Web. 11 Feb 2014.
• .
• Hewitt, John. Angelman Syndrome: Causes, Tests, and Treatments. 2010. Print.

SOURCES

• Lyman, Pamela. In the Company of Angels. Mustang, Oklahoma
• : Tate Publishing, 2012. Print.
• . "Angelman Syndrome." National Center for Biotechnology Information. N.p., 21 01 2011.
• Web. 11 Feb 2014. .