What is Angelman's Syndrome?
Hey guys, for a school thing I need to write about Angelman's Syndrome, but I don't really understand, I am 13 and all the websites I go on are super confusing... can anyone give me a description on Angelman's Syndrome, including it's symptoms, causes and cures if it has one? Like half a page but I don't really mind if you don't write that much because I can extend it.
Thanks so much :) x
- 7 years agoFavorite Answer
Well Angelman Syndrome can be difficult to understand as it is a rather rare disorder. Not many people understand it or have even heard of it. (Even medical professionals) Angelman Syndrome occurs once in about every 15,000 babies born. There is currently no cure for this disorder.
When babies are developing, we receive one set of chromosomes from our mother and one set from our father. We get 23 chromosomes from each parent. Angelman Syndrome occurs when there is a change on one of the chromosomes that a person receives from their mother. Scientists have found that in Angelman Syndrome, the change occurs on Chromosome #15.
* The most common form of Angelman Syndrome occurs when there is a section missing or portion deleted on the 15th chromosome received from the mother. This type is called Deletion Positive.
*Another form of Angelman Syndrome occurs when a person gets two Chromosome 15's from their dad and none from mom. (Some speculate that this occurs because mom's is missing and biology tries to fill in the missing pieces) This is a problem because chromosome 15 is the home for a gene named UBE3A. This gene is very important. However the gene is turned off in our father’s copy of chromosome 15, and turned on in our mothers copy. So if you only receive your 15th chromosomes from your dad, you won’t have any UBE3A gene turned on in that area, thus causing Angelman Syndrome. This form of Angelman Syndrome is known as Uniparental Disomy or UPD ( uniparental means deriving from one parent and disomy loosely means getting two of the same copies of a chromosome, so Uniparental Disomy means getting two of the same copies of a chromosome from one parent)
*A third form of Angelman Syndrome is called Imprinting Defect or ID. This form occurs when chromosome 15 is inherited from the father and the mother. However the copy of chromosome 15 inherited from the mother, looks just like the copy received from dad. So it is "imprinted" improperly. This imprinting defect leads to Angelman Syndrome.
*Finally another form of Angelman Syndrome can occur when there is a mutation on the 15th chromosome inherited from the mother. This rearrangement takes many forms, but can ultimately also lead to Angelman Syndrome Disorder.
Angelman syndrome is characterized by;
• Severe learning difficulties
• Characteristic facial features (The facial features are subtle and include a wide, smiling mouth, prominent chin, and deep set eyes)
• A happy, sociable demeanor
• There are usually delays in development
• They do not speak, however some may develop small vocabularies
• They are often characterized as displaying jerky movements
• Frequent and sometimes inappropriate laughter
• A love of water or plastic (crinkly items)
• And sleeping difficulties or disorders
This is of course just a general short explanation of Angelman Syndrome. As the Resource Specialist for the Angelman Syndrome Foundation, I would be happy to answer any further questions you may have. We can be reached at 1-800-432-6435, firstname.lastname@example.org or via our website at www.angelman.orgSource(s): www.Angelman.org Williams M.D., C., Peters Ph.D, S., & Calculator Ph.D, S. (2009). Fact about angelman syndrome. Retrieved from http://www.angelman.org/_angelman/assets… about as 2009 3-19-10.pdf
- DaanyLv 57 years ago
Angelman Syndrome is caused by 1 of these:
~A genetic misprint on a part of chromosome 15 from the dad, while the mom's segment of the chromosome is missing, or the mom gives a whole extra chromosome
~The gene ends up in the wrong spot on Chromosome 15
~The gene is mutated, and there are no other problems
Symptoms of Angelman Syndrome are:
~Severe developmental delay
~Speech impairment (communicate more with body language, only learn about 5-10 words max)
~A uniquely happy behavior, including happiness, smiling, and hand clapping
~Can't move as well, fine movements are not very good.
~Sleep problems/ less sleep needed than for average people.
Physical Features may occur such as(long list on Wikipedia):
~Strange skin pigmentation
~A jutting jaw
~Flat back of the skull
~Sensitivity to temperature
~Enlarged toes and smooth palms
Seizures, odd head size, and abnormal brain activity levels occur in more than 80% of patients
What is the probability of a child with Angelman Syndrome?
~Various studies show from 1 in 10,000 to 20,000
About the individual's life with Angelman Syndrome:
~Usually a very happy person
~Can be able to learn simple household tasks, dress themselves in easy clothes (e.g. no buttons and zippers)
~Learn 5-10 words, but can communicate better as time goes on
~Adults will generally have less sleeping problems as time goes on and become more "calm" (as in not as smiley and happy)
~If they have seizures, medication can treat that specifically
~Will be able to hold in pee and pooh while awake
~Sexual development is unharmed (there is a case of a female with Angelman Syndrome conceiving a child, who also had Angelman Syndrome).
~Obesity and worsening of scoliosis may occur more.
- Anonymous7 years ago
"a neuro-genetic disorder characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor."
"Angelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome."
"There is currently no cure available"
- unlandLv 44 years ago
Angelman syndrome, prompted through a genetic defect on chromosome 15, includes developmental delay, near absence of speech, and facial abnormalities. Essentially the most placing attribute of any person with Angelman syndrome, although, is the appearance of being glad most of the time, with accepted smiling and extended episodes of laughter. Angelman syndrome could arise in humans of all ethnic backgrounds. About 70-seventy five% of members born with Angelman syndrome haven't any loved ones history of the sickness. Symptoms members with Angelman syndrome share fashioned characteristics: Developmental prolong and functional impairment Disparity between figuring out language and talking; speaks few or no phrases; could also be able to make use of nonverbal gestures short concentration span, hyperactivity, with ease excitable, seems completely happy, universal smiling and/or laughing problem with movement or balance, together with obstacle going for walks and/or tremors of limbs. In addition, participants with Angelman syndrome may have: Seizures of any variety Delayed, disproportionate development of head in childhood Hypopigmented epidermis and eyes extensive mouth, extensively-spaced teeth, protruding tongue, drooling, feeding problems and in general striking matters in the mouth for the period of infancy Sleep disturbance.