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See the complete list of topics.

Camps | Causes of Angelman Syndrome | CBD Oil | Celebrations | Champions (ASF Family) | Clinics | Clothing | Communication | Community | Conferences | Conservatorship | Constipation | Coping

 

Camps

Go to Resources and select Camps for Children with Special Needs from the Category drop down for a list of camps for people with special needs. 

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Causes of Angelman Syndrome

Deletions 15q11.2-q13(68% of cases) – the majority of AS cases are caused by deletions on the maternal copy of Chromosome 15. Due to genomic imprinting, only the maternal copy of UBE3A is expressed in the brain. The deletion thus removes the normal expression of this gene in AS individuals.

UBE3A mutations (11% of cases) – In these individuals, mutations in the UBE3A gene either prevent its expression or function. Thus these individuals do not have the appropriate levels of functional UBE3A in the brain.

Uniparental disomy (UPD; 7% of cases) – in UPD, the individual has two copies of paternal Chromosome 15. Because UBE3A is not expressed from the paternal copy, these individuals lack normal levels of UBE3A in the brain.

Imprinting defect (3% of cases) – These individuals may have a deletion of the imprinting center an Chromosome 15, but cases can also be caused by loss of imprinting information during the mother’s oogenesis. Loss of imprinting will prevent expression of the maternal UBE3A gene in the brain.

Clinical/other (11%) – In these individuals, all testing for Angelman Syndrome is normal, but they still meet the diagnostic criteria for AS. These individuals may have as yet unrecognized mutations that affect UBE3A or genomic imprinting on Chromosome 15.

Mutation examples

Recurrence Risks

UBE3A or genomic imprinting on Chromosome 15 – An increased risk seems likely but probably does not exceed 10%. 

Germ Cell Mosaicism – This term refers to a phenomenon in which a genetic defect is present in the cells of the gonad (ovary in the mother’s case) but not in other cells of the body. This occurrence can lead to errors in risk assessment because a genetic test, for example on a mother’s blood cells, will be normal when in fact a genetic defect is present in the germline cells of her ovary. Fortunately, germ cell mosaicism occurs very infrequently. Nevertheless, it has been observed in AS caused by the mechanisms of large chromosome deletion, Imprinting Center deletion and UBE3A mutation. See G-Germ Cell Mosaicism

Imprinting Inheritance – UBE3A mutations and Imprinting Center deletions can exhibit imprinting inheritance wherein a carrier father can pass on the genetic defect to his children without it causing any problems, but whenever a female passes this same genetic defect on to her children, regardless of the sex of her child, that child will have AS. The pedigree diagram below illustrates imprinting inheritance. Here, AS has only occurred after a carrier mother passed on the gene defect (for example as in the two siblings with AS pictured on the left lower part of the pedigree). In addition, a distant cousin in this family also has AS due to the imprinting inheritance. When an AS genetic mechanism is determined to be inherited, genetic testing of family members can usually identify carriers of the gene defect. As you might imagine, professional genetic counseling is advised in these situations.

 Also See I- Imprinting Inheritance

 

Also, see the University of Florida Division of Genetics and Metabolism website

It details recurrence risks:

  • Common Chromosome Deletion less than 1% recurrence risk
  • Paternal Uniparental Disomy less than 1% recurrence risk
  • Imprinting Center 50% recurrence risk
  • UBE3A Mutations 50% recurrence risk
  • Individuals with no known mechanism (does not exceed 10% risk)
  • Germ Cell Mosaicism
  • Imprinting Inheritance

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CBD Oil

See information about the ASF funded research study on CBD and AS that was was published in BioRXiv and the Journal of Clinical Investigation.  CBD May Alleviate Seizures, Benefit Behaviors in People with Neurodevelopmental Conditions

Patients and families should always seek advice from their physician before taking any CBD products, and know that a human clinical trial is needed to fully understand its efficacy and safety.

Angelman Family Contribution

Charlotte’s Web worked for us. Wings did not given its THC content, but we have heard great success stories from other families so it really is trial and error for each individual body and see how it responds.
Tatiana, angel Alina, age 4, UBE3A Mutation

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Celebrations

Angelman Family Contributions: Celebrations

We celebrate all positive behavior, efforts, and ALL milestones. We focus on encouraging through positive affirmations, singing, clapping, dance parties, “woohoo’s!” We have found this to be a huge self-esteem boost, & motivation for all of the growth & development.
Annie, Folsom, CA, Ava, 7 Del+

Bouncy houses have been a great hit with our Angel, it also creates an activity where she is included with other children.
Tatiana, angel Alina, age 4, UBE3A Mutation

When young, our son did not enjoy loud singing or yelling. We would softly sing Happy Birthday or warn him in restaurants, etc. Silly distractions can help. We also used a lot of praise for skills gained and small triumphs as they seem to love positive feedback!
Andrea, mcneilak98@gmail.com, angel Tyler, age 18 Del+ Class 1

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Champions

See the ASF Family Champions. Champions are AS parents who volunteer to be a resource for other families.  Please contact one in your area for specific information and support. They are eager to help!

 

Clinics for Angelman Syndrome

See AS Clinics.

 

Clothing

Angelman Family Contributions

For my daughter, clothing is a real challenge. She seems to feel very uncomfortable in different fabrics and even different styles of shirts.  Here’s my tip: consignment stores!  I will go often, especially during sales, and buy a variety of tops and dresses that I think my daughter will like.  My daughter pretty quickly shows me what she doesn’t like by pulling at the collar, fussing, or chewing on the item. By utilizing consignment stores, I can find all kinds of tops in different brands and styles. I will often discover a favorite item, and then I look up that style and brand online and purchase duplicates from places Poshmark or even the original retailer, like Target.
Sarah, bnamommyisfun@yahoo.com, angel Lily, age 14, Del +

Dress them with age appropriate clothes.
Norma, angel Katarina, age 20, Del +

For night time… I cut open the back of a t-shirt and sew in a zipper.  Then I sew the t-shirt to elasticized shorts or long pants.  It is now a onesie that can actually be worn in public places.   You could use an AS shirt to spread awareness.
Cheryl, weitty6@yahoo.com, angel Megan, age 23, Del+

An Australian company, named Wonsies, make great one piece pajamas for an age, size, or weight and some designs are escape-proof!
Pam and Warren, wpnew@windstream.net, angels Jonathan and Andrea, ages 40 and 35, UBE3A Mutation

The easier the clothing the better. Choose pants without zippers and buttons. He wears an adult one- piece footless sleeper that we put on backwards to prevent diaper digging at night. 
AS Family Member

I recommend “Life is Good” t-shirts.  They are sturdy around the neck and are well made.  An added bonus is they can feature a written inspirational message which makes your child an “ambassador” and it gives them a “voice”.  Part of the proceeds go to the Life is Good Foundation which helps children in need.  P.S. The ASF t-shirts are great, too!
Alice, sandiegoasfwalk@gmail.com, San Diego, CA, angel Whitney, age 38  Del+ Class 1

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Communication

Go to Resources and select AAC & Technology from the Category drop down menu.

The ASF Communication Training Series is a video/webinar based training series for care providers and their support teams can go at their own pace as they are working with their special person with AS. 

So Much to Say by Dr. Stephen Calculator arms you with a lifetime of experiences that have created more effective communicators who are better able to participate in all facets of life.  Published April 3, 2018 Paperback – 308 pages $18.99

Communication Strategies for Children with Angelman Syndrome.  Authors: Ms. Kearns is a senior speech-language pathologist and Coordinator of the Technology Resource Center in Cleveland Clinic Children’s Hospital for Rehabilitation. She works with children with a variety of complex communication needs. Dr. Henry is Director of Developmental Pediatrics and Physical Medicine and Rehabilitation.

The ASF Communication Advisory Committee (CAC) is committed to helping all individuals with Angelman syndrome improve their communication skills. The CAC is made up of eight Angelman syndrome, education and communication industry experts. The team works toward two major goals: to define high-priority areas of AS communication research for funding, and attract new professionals to explore AS communication research. 

Angelman Family Contributions

This is the aspect of AS that causes me the most sadness even though our son has over sixty signs. He shakes his head yes and no and uses an AAC device. Nothing can ever replace verbal speech. If he could just tell me “Mom, I do not feel well… Mom, I do not like that person… or, Mom, I am soooo bored at school,” that would make his life so much easier.
AS Family Member

Let your angel know what is coming up next. *When you are done eating we are going to brush your teeth.” Give them time to process. “When I’m done with my coffee, you are going to get a bath.”
Norma, Murrieta, CA, angel Katarina, age 20, Del +

Our son has done very well learning the LAMP AAC program for the iPad. It is a motor-planning concept that works well for kids with Autism. He has learned where words are located and only has to push 1-2 icons to make a word appear in the text line and hear it voiced. We have enjoyed knowing what he’s interested in and being able to verbally interact, and he often likes to make funny comments!
Andrea, mcneilak98@gmail.com, angel Tyler, age 18 Del+ Class 1

Communicate by talking simply, directly, and use visuals as much as possible while talking even if your Angel is nonverbal. This helps with lowering anxiety and his/her uncertainty. Assume he/she might respond even when you know he won’t.
Terry, angel Byron, age 35

My daughter’s communication is very limited… no words, no pointing. My tip is to focus on what our kids can communicate and build on that.  When she smiles, I smile back and hug her. I assume she’s telling me she loves me. When she laughs at something during dinner, we all pause and reflect back to her and why she must be laughing out, usually causing us all to laugh more at the many theories of what it might be. When she sneaks past the den and ends up feasting on bananas on the kitchen counter, I don’t get mad (though this ruins her keto diet), I laugh and let her know that I know she must miss this favorite food and I try to add a little to her next meal. When she fusses, I try to figure it out and if I solve the puzzle of her frustration, she usually smiles up at me, as if to say, “Thank you. You heard me”
Sarah, bnamommyisfun@yahoo.com, angel Lily, age 14, Del+

Throughout my daughter’s life, I have used a special voice when talking to her. Her eyes always light up with a big smile because she clearly knows I am having a conversation with HER! I talk to her as if she understands every word. I also admit that I talk FOR her at times. This adds humor to our daily lives, and I strongly believe it empowers her when I read her mind! 
Alice, sandiegoasfwalk@gmail.com, San Diego, CA, angel Whitney, age 38, Del+ Class 1

At the beginning of the day, I narrate to my son what the day will be like just as you would tell a typical child the big events on the schedule (Ex. “We’re headed to daycare, and after breakfast Mommy will come and get you for therapy. After therapy, you go back to daycare for lunch and a nap. At the end of the day, Daddy will pick you up and we’ll take you to ride the horse.” After each event, we, again, narrate the rest of the day to remind him. Time and time again, he has proven that he understands (3 yr old, del+) because when the schedule changes and someone doesn’t show up after breakfast, he throws a fit and keeps crawling toward the gate where parents arrive.
Desiree, desireemartika@yahoo.com, angel Titus, age 3, Del+

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Community

Developing a community around your child is vital. Get involved at your church and other community groups.

Angelman Family Contributions

We are very actively involved in our community. Our angel Maddy, age 12, loves going to the soccer field to watch her sister play, attending professional soccer games, and going to our school’s plays, musical theater productions, or dance concerts. The more we take her out into the community, the more people get to meet her and are always happy to see her smile and having a great time wherever she goes.
Myriah, Angel Madeline, age 12, Mutation

My angel Miata is 24 years old and very active in her community. We attend church, volunteer with local foundations, and are always on the go. Every weekend we are out and about, soaking up the sun and spreading joy and love to everyone we meet. We’ve even spoken with general managers at our local Walmart and was able to get them to order the Caroline Cart for easier shopping.
Patricia, ladyp729@yahoo.com, angel Miata, age 24

Any time we can, we include our daughter in our community events. She attends church, her brother’s XC and track meets, and VBS. What we have discovered is that our daughter loves to go places, so she often has great behavior and lights up with the opportunity to be out and about with her family. On the other hand, some events are just not a blessing to her and end up being a ton of work and for something she doesn’t care about. This is how we weed out her inclusion into community events. If I suspect she cares and wants to be a part, we make that our aim. Otherwise, we figure out a way for her to do something different or more on par with something she would enjoy. For instance, we used to have over 100 students at our house for special events. These nights simply overwhelmed her, so once we discovered this we tried to arrange something different for her, like going with a caregiver to a local store or going to our park.  Another example is that for many years going to church was a huge struggle but a high priority for our family. When the time was right and leadership at our church was favorable to the idea, I started a ministry to families with special needs. This has been such a blessing because not only does it help my daughter, it expands to allow any family experiencing special needs to attend our church.
Sarah, bnamommyisfun@yahoo.com, angel Lily, age 14, Del+

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Conferences

For information about upcoming and past ASF Conferences, visit Events > Conferencesand Symposia.

Family Conferences: Every other year the ASF holds a conference to gather families, care providers, therapists, teachers, scientists, researchers and doctors under one roof to learn and discuss the latest information on Angelman syndrome. The conference is a great networking opportunity and a time to meet new friends and catch up with old ones! The first ASF family conference was held in Orlando, Florida in 1993.

Conferences are helpful to network with other families. Check with local agencies to see if they will fund your travel expenses. The Kiwanis Club, the Lions Club, the Optimist Club, etc. We are not too proud to ask for help with expenses…because this is a lifetime commitment. So we try to save as much of our personal money as possible for his future.

The Scientific Symposium is held every year. This two-day symposium is a chance for leading researchers, scientists and doctors to discuss the latest research activities in the world of AS. The first day is focused on a specific topic with 5-8 presenters. This day is a unique opportunity for researchers to present their latest findings of their works and compare notes with colleagues from around the globe. The second day includes short presentations on all areas of AS.

The following is a list of the ASF Family Conferences held since 1991. Also included, are the years the Scientific Symposia were held. The Symposia are held concurrently with the Family Conferences. ***Since 2008, the Scientific Symposia have been held every year.

  • 1991      Orlando, FL
  • 1993      Orlando, FL
  • 1995      Colorado Springs, CO
  • 1997      Seattle, WA
  • 1999      Philadelphia (Cherry Hill, NJ), PA
  • 2001      Chicago (Oakbrook), IL
  • 2003      Washington, DC
  • 2005      Anaheim, CA
  • 2007      St. Louis, MO
  • 2008      Scientific Symposium only – Boston, MA
  • 2009      Orlando, FL
  • 2010      Scientific Symposium only – Chapel Hill, NC
  • 2011      Salt Lake City, UT
  • 2012      Scientific Symposium only – Rockville, MD
  • 2013      Orlando, FL
  • 2014      Scientific Symposium only – Cambridge, MA
  • 2015      Chicago (Schaumburg), IL
  • 2016      Scientific Symposium only – Silver Springs/Bethesda, MD
  • 2017      Phoenix, AZ
  • 2018      Scientific Symposium only – Chapel Hill, NC
  • 2019      Louisville, KY

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Conservatorship

Here is the online statement about conservatorship:

In the United States, all adults are considered capable of handling their own affairs unless a Judge determines otherwise. In California, this legal arrangement is called a conservatorship.

Conservatorships are established for impaired adults, most often older people. Adults who are developmentally disabled or the victims of a catastrophic illness or accident also may have conservatorship.

Angelman Family Contributions

We went through a legal process in California to obtain conservatorship of our adult daughter in California. Our regional center case manager assisted us with the process and we appeared before a judge in Superior Court. Our adult daughter has needed several surgeries, and we have been required to bring proof of conservatorship for the surgeries to proceed. In addition, it is essential to have conservatorship with financial and other decision-making. 
AS Family Member

We looked into this about 6 months before our son turned 18 to find a family lawyer and begin the process as it takes a few months but needs to be done close to the 18th birthday. The more information you can supply regarding finances and proof of AS, the smoother it will go.
Andrea, mcneilak98@gmail.com, angel Tyler, age 18, Del+ Class 1

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Constipation

17 Best Foods for Constipation https://www.healthline.com/nutrition/best-foods-for-constipation

 

Angelman Family Contributions

For constipation issues, Miralax worked wonders for us. We went from once a day to every other day to twice a week. When our Angels are constipated, it can lead to fevers. This is a very gentle remedy and really does the trick.
Jeanne Seltzer

For constipation, I have found that Chia seeds work well. Use 1 part Chia seeds to 3 parts liquid (I use skim milk). Provide time to soak in a custard/pudding that can be flavored with yogurt and fruits. You could also use it when making chicken broth and vegetables.
AS Family Member

Vitafusion Fiberwell Gummies Can be purchased at pharmacies, as well as Walmart, Target, etc.). This chewable supplement provides 5 grams of fiber; has a peach, strawberry and blackberry flavor; and can be cut in half for easier chewing.
AS Family Member

This is a huge problem, especially in the early years. Our angel’s extreme constipation caused complete bowel blockage which was evidenced by throwing up green bile. But eliminating dairy and having him get at least 40-50 oz of water daily is a must!! Miralax every day is necessary for us.
AS Family Member

We make an effort to prevent and alleviate our daughter’s constipation naturally (she is 3y 1m, del+). We try to do oatmeal several mornings a week with flax seed and usually give her sweet potatoes 3-4 times a week. Push, push, push water and other fluids. Juices never worked for her. Figs worked too well. She loves dairy and bananas, so keeping her regular has already proven difficult. When she starts having difficulty we start small with a sprinkle of Miralax in her morning juice and if we’re too late we end up having to give Pedilax (suppository). She has low muscle tone in her lower abdomen and lower back. I assume that is the reason that her constipation results in a buildup at the base of her lower intestine. The suppository generally lets it slide out versus breaking it down. I know that the older she gets, the harder it is going to be to control for her, but that is why we’re trying to figure out what works best now. We will eventually be trying Senna tea when she is older, as long as it doesn’t interact with anything else and Probiotic supplements. We are also trying to avoid giving her sugary drinks since she will want to replace her regular drinks with sugary one once she discovers them! Best of luck!
Candace, angel Everly, age 3, Del+

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Coping

Visit the Resources page and select Support from the Category drop down menu.  

See H-Humor |   P- Parents’ Health  |  Q-Quotes

 

10 Tips for Parenting Children with Special Needs
Jessica Graham

Be a “professional” patient. Show up to appointments on time. Bring the necessary records. Call when you’re running late or need to cancel.

Be kind. Be friendly and polite to the medical staff. Make friends with them, not because you’re trying to manipulate them, but because you need friends.

Be an expert. Know everything you can about your child’s condition. Read journals. Study websites. Learn. You aren’t going to have time for any of this — do it anyway.

Be your child’s best advocate. Don’t be afraid to speak up. To ask questions. To get multiple opinions. To ask your doctor about the research. Take your child to the best. Switch doctors when you don’t like the standard of care.

Let the doctor be the doctor. Do this not because this person has the medical degree, but because it’s his or her job, not yours.

Don’t let your child’s needs isolate you. Having a child with special needs can be lonely and intimidating. Do not allow it to alienate you from the people around you.

Find support groups. Join online groups. Find a support group. Have someone to whom you can vent and relate. Don’t lose the people around you.

Allow yourself to recuperate. Whenever athletes do any kind of strenuous exercise, they rest to give their bodies a chance to recuperate and to avoid injury. Allow yourself to do the same — mental exhaustion is real.

Appreciate that things improve with time. Your child’s prognosis may not improve, his or her condition may be debilitating, and these are hard, hard things. But some things do get easier with time. Time, for better or worse, means more experience, more practice, greater perspective.

Learn how to be a parent, not just a caregiver. You’re a pharmaceutical dispensary, a home therapist, an insurance specialist (yes, you will spend so much time on the phone with the insurance company that your ears will bleed) and medical transporter. But you’re also a parent. Take the time to appreciate your child and to love that child as only a parent can.

Angelman Family Contributions

Get a good talk therapist for yourself and go regularly.
AS Family Member