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See the complete list of topics.

Education/School | EEG | Entertainment | Epilepsy | Exercise | Eye Issues

 

Education / School

Also see I – IEP.

See the Resources & Education section and select Education & Learning and Special Education from the Categry dropdown menu, for a list of resources.

Angelman Family Contributions

Decide what is important to your angel and advocate for that.
AS Family Member

Be realistic about what you expect from your school system. You could spend your entire time fighting for things that your school is not even capable of. This is a marathon… not a race. Conserve your energy!
AS Family Member

Our child has difficulty staying focused and engaged with groups for very long in school. We have found that movement helps him with sensory processing and allows him to function easier. So while sitting during circle time at school, a weighted blanket helps to provide extra input and deep touch pressure, therefore, decreasing his movement needs. We have also heard of people using fidget toys and “move and sit discs”. Movement breaks can be important as well.
Desiree, desireemartika@yahoo.com, angel Titus, age 3, Del+

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EEG

Also see S – Seizures and Seizure Medication

 

Normal EEG

normal EEG

Angelman Syndrome EEG showing typical posterior notched delta activity

AS EEG

 

Angelman Family Contributions

Extended EEG’s are miserable for angels. Unless it is truly necessary, we do NOT subject our angel to these anymore.
AS Family Member

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Entertainment

Angelman Family Contributions

Try something new for entertainment every week, from going to an amusement park, the movies, a kids themed restaurant, a family gathering, the pool, horseback riding, riding a bike/trike, going to a wedding, dancing, playing a board game, walking, cruising the neighborhood, going on vacation, etc, etc.  There’s a million ways to entertain our Angels, especially during the holidays.Try a new thing every week by creating an event on your calendar or schedule and follow through. Each new thing they try is an opportunity to open doors for independence and for learning. And don’t just try it once, try a few times to see if they truly like it or not before moving on to the next new thing. Also, before trying out something new, explain what the surprise for the week is by showing them a video or pictures and talking about the different things they’ll see where you will be going. We started this a few years ago and my daughter loves it!
Maria, tinyangel5@yahoo.com, angel Vivienne, age 12, UBE3A Mutation

Justin loves to go horseback riding! It started out as therapy when he was 3 but now at 22 he still loves it!! As soon as he gets home from his day program on Tuesdays and Thursdays I have his helmet in my hands and he goes right to my car! This is his totally fulfilling entertainment /fun for him! He smiles the entire time while on his horse Iggy!! I say we are gonna ride Iggy and he lights up with that smile!
Barbara, bbarclay1@verizon, angel Justin, age 22

Our son loves musical performances, the circus, and going to the movies.
AS Family Member

Musicals and any video or image that has dancing seems to be very interesting to my Angel. Especially if the characters are real people and not cartoons.
Tatiana, angel Alina, age 4, UBE3A Mutation

I will never forget the first time I took my daughter to a movie on Thanksgiving Day to see Frozen.  Extended family had come to visit, and I didn’t want my girl left out, though I wondered if she would make it through the movie. She loved it! After this, we had so much fun as a family planning for another movie outing because this made us all feel so good that EVERYONE could do this. We discovered soon that she liked watching movies at home, too, and so because of her limited eyesight we mounted our TV above a sturdy piece of furniture, so that she can stand and watch her favorite movies and shows. I think this makes our girl feel validated and understood, but we could have so easily second-guessed our decision to take her to the movies, and we would have missed out on this thing she loves so much.
Sarah, bnamommyisfun@yahoo.com, angel Lily, age 14, Del+

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Epilepsy (see Seizures)

Epilepsy Foundation website:

https://www.epilepsy.com/learn/epilepsy-due-specific-causes/angelman-syndrome

 

Exercise

Angelman Family Contributions

Our angel is food addicted and exercise is very important! It helps him sleep better too!
AS Family Member

Justin loves to go horseback riding! It started out as therapy when he was 3 but now at 22 he still loves it!! As soon as he gets home from his day program on Tuesdays and Thursdays I have his helmet in my hands and he goes right to my car! This is his totally fulfilling entertainment /fun for him! He smiles the entire time while on his horse Iggy!! I say we are gonna ride Iggy and he lights up with that smile!
Barbara, bbarclay1@verizon, angel Justin, age 22

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Eye Issues

Hypopigmentation, Strabismus and Ocular Albinism

Information from the 2009 document written by Charles A. Williams, M.D;  Sarika  U. Peters, Ph.D.; and Sarika U. Peters, Ph.D.
http://www.angelman.org/_angelman/assets/File/facts about as 2009 3-19-10.pdf

When AS is caused by the large deletion, skin and eye hypopigmentation usually result. This occurs because there is a pigment gene (the P gene, also termed OCA2), located close to the AS gene, that is also missing [75]. This pigment gene produces a protein that is believed to be crucial in melanin synthesis. Melanin is the main pigment molecule in our skin. In some children with AS, this hypopigmentation can be so severe that a form of albinism is suspected [76]. When AS is caused by the other genetic mechanisms, this gene is not missing and thus normal skin and eye pigmentation is seen. Children with AS who have hypopigmentation are sun sensitive, so use of a protective sun screen is important. Not all AS children with deletions of the P gene are obviously hypopigmented, but may only have relatively lighter skin color than either parent.

Surveys of individuals with AS demonstrate an increased incidence of strabismus. This problem appears to be more common in children with hypopigmentation (as above), since pigment in the retina is crucial to normal development of the optic nerve pathways. Management of strabismus in AS is similar to that in other children: evaluation by an ophthalmologist, correction of any visual deficit, and where appropriate, patching and surgical adjustment of the extraocular muscles. The hypermotoric activities of some AS children will make wearing of patches or glasses difficult but many are able to accomplish this.

Angelman Family Contributions

Although there is no evidence linking the development of pterygiums on the corneas of the eyes and Angelman syndrome, I have a strong suspicion that some angels could be more susceptible. My concern is with the affected OCA2 gene in some AS individuals with large deletions. At a very early age, our daughter would go to great lengths to flip around in her stroller and avoid the sun and I believe she had extreme sun sensitivity. Our deletion positive, class 1 daughter with Angelman syndrome developed very aggressive pterygiums in her early 20’s. Pterygiums are membranes or “blisters” that grow on the cornea of the eye. People living in sunny, dry climates are especially susceptible, but people anywhere can develop them. Pterygiums begin growing in the corners of the eye and can spread across if left untreated. Our older daughter first noticed the pterygiums on our angel’s eyes (we never did) so you might want to ask your angel’s doctor to watch for them. Unfortunately, for our angel, scar tissue formed after surgeries to remove the pterygiums, and this necessitated several corneal transplants to restore her eyesight. Research has led us to believe that she has Ocular Albinism Type 2. There have been other cases of this in children with AS.
Alice, sandiegoasfwalk@gmail.com, angel Whitney, age 38, Del+ Class 1

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