FAQ - Angelman Syndrome
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Angelman Syndrome.....?

1.What are the possible genotypes of the parents? If the disease is a chromosomal abnormality describe the abnormality?
2.How prevalent is the disease in the population (include statistics)?
3.What are the chances of a person with this disease passing the disease to their offspring (include possible scenarios)?
4.How is the disease diagnosed?
5.What are the physical symptoms of the disease?
6.What is the life expectancy of someone with the disease?
7.How can the disease be treated?
8.What is everyday life like? What is the quality of life?
9.What limitations does the person have?
10.What are some organizations that can help a family cope with a child's disorder (web links).
11.How possible is it that a cure will be found?

I will be working on this tonight and till 5 o'clock eastern time tomorrow. The person who has the most answers that I need by that time will be awarded the best answer. Good luck!
2, 4, 5, 6 ,7 no longer need to be answered
Also 11 and 10

go to webmd! It'll have all your answers!  (+ info)

What kinds of activities are recommended for a nonverbal 12 year old female with angelman syndrome?

I started a new job working with a girl who has this. I am perplexed by what kinds of activities will best work or will inhance her skills.

check this site it sounds like you don`t know much about angelman syndrome and it will help you decide the best activities for her  (+ info)

What is the life span with someone with angelman syndrome?

How long will they live.
Is it deadly?

It is not deadly in and of itself; people with Angelman Syndrome can and often do have normal life spans.  (+ info)

What research are being done by scientists to help Angelman Syndrome victims?

Please tell if scientists are trying to find a vaccine or therapy or ANYTHING about their research.
i try to google it but cannot find specific answers, thats why i'm asking in yahoo!!!

There are several information sites out there and an Angelman Syndrome home page chocked full of information - I have attached the links below. God Bless you and your family.



http://www.ninds.nih.gov/disorders/angelman/angelman.htm  (+ info)

Is angelman Syndrome inherited or a disorder?

Is it inherited-and if so is it recessive or dominant?
and can it be prevented?

What is Angelman syndrome?
Angelman syndrome is a complex genetic disorder that affects the nervous system. Characteristic features of this condition include developmental delay or mental retardation, severe speech impairment, seizures, small head size (microcephaly), and problems with movement and balance (ataxia). Delayed development can be noted by 6 months to 12 months of age, and other common signs and symptoms usually become apparent in early childhood. People with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling and laughter, a short attention span, and hand-flapping movements. Some affected individuals also have unusually fair skin and light-colored hair.

How common is Angelman syndrome?
Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.

What are the genetic changes related to Angelman syndrome?
Angelman syndrome is related to chromosome 15.

Mutations in the UBE3A gene cause Angelman syndrome.

The OCA2 gene is associated with Angelman syndrome.

People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are active in many of the body's tissues. In the brain, however, only the copy inherited from a person's mother (the maternal copy) is active. This parent-specific gene activation is called genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in the brain. This loss of gene function likely causes many of the characteristic features of Angelman syndrome.

Several different genetic mechanisms can result in the inactivation or absence of the maternal copy of the UBE3A gene. Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases (about 11 percent), Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene.

In a small percentage of cases, a person with Angelman syndrome inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent. This phenomenon is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the DNA region that controls activation of the UBE3A gene. Both of these genetic changes can abnormally inactivate UBE3A or other genes on the maternal copy of chromosome 15.

The OCA2 gene is located on the segment of chromosome 15 that is often deleted in Angelman syndrome. The protein produced from this gene helps determine the coloring (pigmentation) of the skin, hair, and eyes. A deletion of the OCA2 gene is associated with light-colored hair and fair skin in some people with this condition.

The causes of Angelman syndrome are unknown in 10 to 15 percent of cases. Changes involving other genes or chromosomes may be responsible for the features of Angelman syndrome in these cases.

Read more about the OCA2 and UBE3A genes and chromosome 15.

Can Angelman syndrome be inherited?
Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells or in early fetal development. Affected people typically have no history of the disorder in their family.

Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby DNA region that controls gene activation to be passed from one generation to the next.

Where can I find information about treatment for Angelman syndrome?
These resources address the management of Angelman syndrome and may include treatment providers.

Gene Review: Angelman Syndrome
MedlinePlus Encyclopedia: Mental Retardation
MedlinePlus Encyclopedia: Speech Disorders
You might also find information on treatment of Angelman syndrome in Educational resources and Patient support.

Where can I find additional information about Angelman syndrome?
You may find the following resources about Angelman syndrome helpful. These materials are written for the general public.

MedlinePlus - Health information (4 links)
Additional NIH Resources - National Institutes of Health (2 links)
Educational resources - Information pages (10 links)
Patient support - For patients and families (5 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews - Clinical summary
Gene Tests - DNA tests ordered by healthcare professionals
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
Online Books - Medical and science texts
Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Molecular C  (+ info)

Who can be affected by the Angelman syndrome?

anyone can right? like, at birth

or does it have to run within the family?

Certain genes are missing from the long arm of chromosome #15. The defect is transmitted via the mother. An almost identical gene deletion from the father's Chromosome 15 leads to a child with Prader Willi Syndrome, quite different from Angelman syndrome.

In certain situations 50% of sibs can be affected, in other situations, only about 1% risk of recurrence in a family. The genetics are more complex than I feel I can explain.   (+ info)

Is a certain population at a higher risk of inheriting angelman syndrome?

Like gender and/or ethnicity.

I don't have an answer but I can suggest a source where your should be able to obtain an accurate response.

Angelman Foundation

Submit your question to them. Good luck.  (+ info)

Is angelman syndrome a multifactoral trait?

I need help with a project, and I'm confused.

Angelman syndrome is caused by the deletion or inactivation of a single gene (UBE3A) on the maternal 15th chromasome. So therefore it is NOT multifactorial (multifactorial traits involve input from multiple genes)  (+ info)

What is the major population affected by angelman syndrome?

plz help me

Western European and their descendants. Mostly Dutch, Swedish and English.  (+ info)

Does the angelman syndrome fall under the category of a birth defect?

  (+ info)

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