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Angelman Syndrome

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by

Nicole Melnyk

on 19 March 2015

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Transcript of Angelman Syndrome

What happens to the body?
How it is inherited
81% of AS cases are found on chromosome 15, where the UBE3A gene is located. Angelman Syndrome is not sex-linked. AS is neither recessive nor dominant, as most cases are not inherited, but a form of genetic imprinting.
How do you get it?
Everyone is supposed to inherit two copies of a gene called UBE3A, one from each parent. In many of the body’s tissues, both copies of this gene are active. However, in parts of the brain, only the maternal copy is active. If the maternal copy is lost in a genetic mutation or chromosomal change, parts of the brain will not have UBE3A.
Who is most likely to get it?
AS is very rare, and only affects 1 in every 12,000 to 20,000 people. No specific group of people is more likely to have AS than anyone else.
Works Cited
"Understanding AS." - Angelman Syndrome Foundation, Inc. Research, Genetic Counseling, Diagnosis, Seizures, Angelmans Syndrome Association. N.p., n.d. Web. 12 Mar. 2015. <http://www.angelman.org/understanding-as/>.
"Understanding AS." - Angelman Syndrome Foundation, Inc. Research, Genetic Counseling, Diagnosis, Seizures, Angelmans Syndrome Association. N.p., n.d. Web. 12 Mar. 2015. <http://www.angelman.org/understanding-as/>.
"Top 11 Doctor Insights on Is Angelman Syndrome Dominant or Recessive - HealthTap." HealthTap. N.p., n.d. Web. 16 Mar. 2015. <https://www.healthtap.com/topics/is-angelman-syndrome-dominant-or-recessive>.
Milunsky, Aubrey. Your Genetic Destiny: Know Your Genes, Secure Your Health, and save Your Life. Cambridge, MA: Perseus Pub., 2001. Print.
"Angelman Syndrome." Tests and Diagnosis. N.p., 5 Dec. 2014. Web. 16 Mar. 2015. <http://www.mayoclinic.org/diseases-conditions/angelman-syndrome/basics/tests-diagnosis/con-20033404>.
"Angelman Syndrome." Treatments and Drugs. N.p., n.d. Web. 16 Mar. 2015. <http://www.mayoclinic.org/diseases-conditions/angelman-syndrome/basics/treatment/con-20033404>.
"Research Discovers New Clues for Potential Treatments of Angelman Syndrome." - Angelman 2. N.p., n.d. Web. 16 Mar. 2015. <http://www.angelman.org/news/research-discovers-new-clues-for-potential-treatments-of-angelman-syndrome/>.
Angelman Syndrome
by Nicole Melnyk

What happens to the body? (cont.)
Characteristics of AS include: delayed development, intellectual disability, severe speech impairment, and difficulty with movement and balance.
Symptoms
Children with AS have a happy demeanor and frequently laugh, smile, and flap their hands. Commonly, these children have epilepsy and a small head size. It is also possible for them to have a short attention span and a fascination with water. Many children affected by AS also have trouble sleeping, but require less sleep than the average child.
What is Angelman Syndrome?
Angelman Syndrome (AS) is a very rare neuro-genetic disorder. AS mainly targets the nervous system and causes developmental disabilities.
Cause
70% of AS cases are caused because the maternal copy of UBE3A is deleted, while 11% of cases are a result of the maternal copy being mutated.
Diagnosis
A doctor may suspect that a child has AS if the child has developmental delays and also exhibits symptoms of AS. To confirm a diagnosis, a blood sample must be taken. From there, a number of genetic tests will be conducted, testing for the parental DNA pattern, missing chromosomes, and any mutations in the genes. Genetic counseling can be used to see if children in a family with a history of AS will have the disorder.
Treatment Options
There is no cure for AS. Treatments focus on making the medical and developmental issues manageable. There are four main types of treatment.
Side Effects
As treatment for AS concentrates on helping the affected individual cope with their developmental issues, there are no real side effects that are a result of treatment.
Prognosis
Individuals that have AS generally have normal life spans with or without treatment. An early diagnosis and specialized therapy will help these people achieve a better quality of life.
New Treatments
A research team for the Angelman Syndrome Foundation has discovered that an existing drug compound, CN2097, that is used to protect neurons during conditions of stroke and in disease states could be used to treat AS. This compound breaks down easily within just a few hours, meaning that its effects are not long-lasting, which is why it has not been used to treat patients before now. Although, this research team believes that it could be possible to alter the chemistry of CN2097 to make it useful as a treatment.
Symptoms (cont.)
With age, people with AS become less excitable and also have an easier time sleeping. Although, these individuals will continue to have seizures, speech impairment, and intellectual disability. Adults affected by AS will most likely have "coarse" facial features, fair skin, light-colored hair, and scoliosis.
Treatment #1
Doctors can prescribe anti-seizure medication to help control seizures.
Treatment #2
Physical therapy can help with movement and walking problems.
Treatment #3
Communication therapy can help if the individual has trouble speaking. Communication therapy would include learning sign language and picture communication.
Treatment #4
Behavior therapy helps individuals affected by AS to overcome hyperactivity and a short attention span. This will aid in development.
Full transcript