INCLUDING RESOURCES ● RESEARCH ● INSPIRATION
Angelman
Today
d i g i ta l ma g a z i ne
Angelman Research By Professor David Segal
Holiday Gift Guide
LGIT Recipes
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November - December
Happy Holidays
EDITOR’S LETTER
"It is that wonderful time of year again.. I can’t believe it. Time really flies when you are having fun. We love the holiday season. We love decorating the house together, the holiday music (Frank Sinatra Holiday songs are a family favorite), traditional holiday meals and sweet treats. I spend more time in the kitchen this time of year, but I enjoy it. I am grateful for this past year, it has been full of challenges and achievements. This year Nathan has started to not only use an iPad, but understand and use an app called Touch Chat for (AAC) communication. He loves his iPad! His favorite apps are Disney and Sprout. We have also had some failures this year like potty training. Unsuccessful so far, but we will keep trying. Braden is also doing great. He is getting A’s and B’s on his report cards and received Honor Roll recognition. I am grateful for all that we have gone through and learned. I know for sure, life is always about learning, some lessons more painful than others, but always learning nonetheless. Tomorrow is a new day and soon, it will be a new year. I wish you all a joyous time with friends and family this Holiday season." Warm Wishes,
“I am grateful for this past year, it has been full of challenges and Lizzie Sordia Editor - in - Chief
achievements.” EMAIL: LIZZIE@ANGELMANTODAY.COM FOLLOW: TWITTER.COM/LIZSORDIA FOLLOW: TWITTER.COM/ANGELMANTODAY
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November / December 2014
Holiday Gift Guide
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Calling on the Angelman Community 12 Epilepsy Awareness and Seizure Action .…..………………..….….4-5 International Symposium on Diet Therapies……………………………………6 Angels and iPads…….………………….…7 Calling on the Angelman Community Angelman From A – Z.……………….......12 Dr. Ron Thibert Answers your questions………………….16 Holiday Gift Guide………………………...17 Cooking with Sybille Kraft Bellamy Recipe (LGIT Crackers)……..…..…….…18 Angelman Research Professor David Segal….……………. .…19
Government Benefits and Angelman Syndrome by Eric W. Wright, Ed.D……..24 FAST Gala experience By Karen Hill………………………………27 Angels in Action – Sydney, age 19….…..30 2015 Cover Contest………………….…...31 Cooking with Sybille Kraft Bellamy (LGIT Almond Mousse)…………………..33
The History of Angelman Syndrome (Spanish)……………………………..........34
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19 What’s inside Cover: The Bollin family pictured with Actor Colin Farrell at the 2013 FAST Gala Photo provided courtesy of FAST Photographer: Chris Wilson http://www.1815photography.com
History of Angelman Syndrome…….36 Parent Recommended Books..……………………………..…37
Angelman and Associated Foundations Canadian Angelman Syndrome Society……………….........8 The Angelman Syndrome Foundation…………………….…….....9 Casa Angelman…………………….…22 FAST…………………………..…..…..28
November / December 2014
Epilepsy Awareness
November is Epilepsy Awareness Month Did you know? -1 in 10 people in the US have had a seizure. -The majority of individuals with Angelman Syndrome have Epilepsy.
For more info visit: www.epilepsyfoundation.org
TAKE ACTION AGAINST SEIZURES! Here are some diet options that may help reduce or even stop seizures and some books to help understand why. Diet can be used as the First line of treatment. It is your right as a parent to be able to choose this option. If your neurologist does not practice this, find one who does.
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LGIT (Low Glycemic Index Treatment) Clinically trialed most effective in individuals with Angelman Syndrome Ketogenic Diet Modified Adkins Diet
A perfect “Holiday” gift for Mom Teachers, Therapists & Caregivers! Help ease stress with Young Living’s: Stress Away Roll-on or Stress Away Essential Oil It is a blend of Vanilla, Lavender, Lime, Cedarwood, Copiaba & Ocotea Stress Away Roll-on is my favorite perfume! Roll it on your wrists and back of your neck. breathe and relax… I always keep it handy in my car and bag. Diffuse Stress Away Essential Oil to help take the edge of for you and your family! You can rub it on the bottom of your children’s feet or even put it in the bath. May help: combat stress, reduce anxiety, promote relaxation and sleep, calm tension, and more… Shari Caspert www.youngliving4specialneeds.com WWW.ANGELMANTODAY.COM
November / December 2014
Matthew’s Friend’s Symposium - Liverpool UK 2014 By Sybille Kraft Bellamy A couple of weeks ago I had the opportunity to attend one of my favorite scientific symposiums: The 4th Global Symposium Ketogenic Dietary therapies for Epilepsy and other Neurological disorders. Over 27 countries were present sending the most eminent neurologists, researchers scientists in epilepsy, cancer, molecular biology and nutrition. They presented their clinical trials and laboratory results in the field of the Ketogenic diet.
Angelman syndrome was represented by Dr. Elizabeth Thiele the neurologist from Mass General hospital in Boston who received the John Freeman award from Nancy Abraham (Co-founder of The Charlie Foundation) for her outstanding work in the ketogenic approach for neurological epilepsy. Angelman syndrome and Dravet syndrome are two particular syndromes which respond amazingly well to ketogenic diets. I had the opportunity to share Max’s success with the LGIT. Neurologists, researchers and scientists were very curious to listen about Angelman syndrome and the amazing response they can have with the diet.
For individuals with Angelman syndrome, the LGIT treats both generalized and focal epilepsy. Children following the LGIT benefit from positive side effects as with the classic ketogenic diet. Additional cognitive benefits are: better seizures control, a reduction in the medication load, children improve their learning ability and behavior and last but not least, the quality of life is improved for the family. I greatly encourage parents to look for more information about therapeutic diets. You can find more information on the web sites for the ASF, the Charlie Foundation, Matthews Friends and on the facebook page: angelman syndrome ketogenic diet.
The quality and knowledge of the participants was mind blowing. The dedication and the enthusiasm toward ketogenic diets gave me great hope for our children’s health and quality of life. I always knew that to give food was giving love but today I can say that giving LGIT food is giving my son the best first line of defense possible. I want to thank the Matthew’s friends for their outstanding and amazing symposium. Thank you Emma Williams founder of the Matthews Friends and Julie Edwards who made this event possible. WWW.ANGELMANTODAY.COM
November / December 2014
Angels And Their iPads
Most Popular iOS Communication Apps (click links from iPad)
T h a n k Y o u
THANKS FOR A WONDERFUL CONFERENCE! “Unlocking the Possibilities” – Ottawa, Ontario, July 23rd to 25th, 2014 Congratulations to the organizers, speakers, and delegates at the 13th International Conference of the Canadian Angelman Syndrome Society, held in Ottawa, Ontario from July 23rd to 25th.
Thank you to our fundraisers and donors – without you, our delegates would not have been able to get together for this informative and educational event. A lot of sharing and good ideas were exchanged.
Thank you to our accomplished speakers – it was enlightening to hear firsthand about the latest progress in research, daily living, and support like the CASS/ASF Angelman Syndrome Behaviour Modules. We appreciate the opportunity your attendance gives families to hear your talks and ask questions in person.
And the biggest Thank You to our delegates – we appreciate your participation – it was great to meet you all in person. Conferences are valuable – and our kids are worth it. See you in Chicago at the ASF 2015 Conference!
Thank you to our organizers – the CASS 2014 Conference Committee -- well done, Ottawa.
The Board of CASS www.angelmancanada.org cass@davincibb.net
Together, we are stronger THANK YOU to our incredible supporters this past year Independent fundraisers hosted by supporters of the Angelman Syndrome Foundation last year raised more than $175,000 for the Angelman syndrome community, a truly impressive and magnanimous feat. We at the ASF are humbled and honored to be the stewards of these funds and invest them directly back into the AS community through research and direct support for families. Please extend gratitude to these generous individuals and organizations who gave their time, talent and wallet for the benefit of our loved ones with AS.
University of North Florida vs. Purdue University Golf Tournament—Rob Schiller and Robin Bradbury $16,725 College golfers from UNF and Purdue received a valuable experience in using their sport and talent to benefit others in need.
Blarney Cup—The Fitzgerald Family $40,500 Paddle tournament in Gates Mills, OH in honor of the Fitzgerald’s oldest son, Andrew, who is diagnosed with AS.
9th Annual Labor Day Tractor Cruise— The Olsen Family $6,650 Oakland A’s Championship Anniversary Celebration $40,000 Celebration of the Oakland A’s 25th anniversary of their World Series Championship in 1989 and Dave “Hendu” Henderson, who led the A’s to that World Series win and whose son is diagnosed with AS.
Rockville Centre St. Patrick’s Parade $30,000 Funds raised during Rockville Centre’s St. Patrick’s Parade on Long Island, which featured individuals with AS and their families, were donated to the ASF.
www.Angelman.org
(800) 432-6435
Annual Labor Day Tractor Cruise that has raised more than $25,000 in total for the ASF since its inception, which featured more than 40 tractors and hundreds of participants in Everest, KS this year.
Street Fair—Middletown Elks Lodge #1097 and Angelique Tuthill $5,789 Street fair featuring vendors selling goods, food and drinks, and activities including hayrides and other familyfriendly fun hosted by the Elks Lodge in Middletown, NY.
Int’l (630) 978-4245
info@angelman.org
Meerdo Charity Golf Tournament— The Meerdo Family $5,620
Run Like a Mother 5K— Tiffany Cruikshank $1,810
Golf tournament in Salt Lake City hosted by Andrew Meerdo and his family in honor of their son, Zachary, who is diagnosed with AS.
National 5K hosted locally in Hinsdale, IL by Tiffany Cruikshank on Mother’s Day, which directly benefitted the ASF.
Kick For A Cure—Danny Fisher $5,200 Bloomsburg University (PA) Huskies Football Kicker Danny Fisher used his talent to ask for donations in honor of a family friend, Brianna Rehm, who is diagnosed with AS.
Pardi Gras—Danielle and Jerry Diaz $1,100 Event associated with Mardi Gras where local establishments donated a percentage of proceeds to the ASF.
Family Fun Day—Hope Johansen $4,854 Donations were accepted during this Family Fun Day, which was open to the entire Indianapolis community in honor of Teddy Rokita, featuring games, prizes, auctions and food.
Pennies for Gavin—Julie Staab $4,484 Kids at Gavin Staab’s school collected pennies and other coins throughout the school year and donated to the ASF in his honor.
26.2 for Alex—Ed Strauss $2,872 Alex’s uncle Ed Strauss ran the 2014 Louisiana Marathon and used the race as an opportunity to raise funds, and Alex’s inspiration drove him to achieve his personal best marathon time yet!
Jewelry Sale
Kathy Rokita and Jeanne Lewer
$715
Pig Out for Paul
Mike and Elaine Martin
$610
Run 4 Emmett
Marin Healthy Living
$570
Bake Sale
Alecha Hill and Mesquite Junior High School
$300
Girls on the Run
Glen Arden Elementary School
$271
KR Bake Sale
Kayla Roumeliotis
$230
Book Sale
Erika Pinero
$120
Dodgeball
Bolles School
$100
Community Days
Numerous Retailers
$75
Pampered Chef
Angelique Page
$37
FREE REGISTRATION for 2015 Biennial Conference The 2015 ASF Biennial Conference will feature FREE registration as part of the ASF’s dedication to supporting individuals with AS and their families. Registration will be open in the near future for attendees to reserve their spot, as space will be limited. Included in the FREE registration is access to the 40+ family-focused Conference sessions— providing education and hands-on resources on all things Angelman that are important to you—two continental breakfasts, and the Thursday evening Welcome Reception. The ASF developed a budget worksheet to help families with planning and saving for lodging, food and travel expenses to attend the Conference, the largest gathering of AS families and experts of its kind, and an all-inclusive event that you will not want to miss!
Give the Gift of Hope The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the ASF. It is because of your support that the ASF is able to invest millions in AS research that is making rapid advances toward treatments and provide invaluable support to families during every step of their journey with AS.
Visit the ASF Store for holiday gifts! Giving gifts to your support team of teachers, therapists, specialists and care providers? Visit the ASF Store for some great ideas and ASF-branded items! Numerous apparel items for adults, kids and babies, plus bags, phone cases, mugs and much more!
www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
Angelman Anecdotes Angelman Syndrome from A to Z “The breaking of that awful feeling of isolation is the greatest gift one Angelman family can give to another…. Those of you who will share your experiences will do it because in the Angelman family that is what we do. Whatever problems you have to meet, others not only understand but have found a solution. Whatever road you have traveled, others have traveled before you, so there is no need to travel alone.” Audrey Angelman
Family Members: Let’s honor Audrey’s words by making a family section titled, Angelman Anecdotes (of an updated version of Angelman Syndrome from A to Z) the most collaborative and informative “go to” (online) document ever! You don’t want to miss the opportunity to share a tip or brief anecdote that could make a difference in the life of a precious angel! EVERYONE has at least one tip, discovery, insight, cautionary tale, inspirational success story, favorite website address or link, etc… to share! We all share a common bond and can help one another!
Professionals: WE NEED YOUR HELP MAKING A DIFFERENCE IN THE LIVES OF ANGELS, TOO! Teachers, teacher aides, physical therapists, occupational therapists, physicians, speech and language pathologists, music, aquatic and other therapists certainly have information or success stories to share! We very much appreciate your efforts. ***PARENTS: Please pass this announcement on to any professionals that might be interested.
**** If you have already submitted tips last year for an updated version of Angelman Syndrome from A to Z, please know that they WILL be included in this newly created project.
WWW.ANGELMANTODAY.COM
Audrey and Harry Angelman, Orlando 1993 Whitney and Ashleigh (Sorenson) Evans
Below is a list of suggested topics. However, contributing on ANY topic is appreciated! • Advocacy How are you an advocate for your child? What do you say when a child asks questions about your angel? How do you handle unwelcome comments? How do you educate others? How do you model or set an example for others on how to interact with your angel? • Acid Reflux/Gagging What do you use/do that helps? • Autism-like Behaviors What do you do to provide comfort for your angel and avoid over-stimulation? How do you quell overexcitability? What does your child use for his/her hands to provide comfort and calmness? • Celebration Anecdotes! What are some proud moments you would like to share with others? Include your angel’s name if you wish and we’ll all celebrate with you! November / December 2014
• Conservatorship/Adult Guardianship Describe your experience… Why did it prove helpful to go through this process? • Clothing What brand or type of clothes is most durable or comfortable? If your angel is a “Houdini”, what are the best shoes and where do you find them? What do you use to protect your child’s clothes at school or at home for mealtimes? What swimsuits work best? Is purchasing a heavy-duty washer and dryer important? What stain removing products work best? • Communication Detail your success stories. • Constipation/Digestive Issues What works with your angel? • Coping What do you do when you are overwhelmed? What advice can you give to younger parents? • Dental Work How do you handle tooth brushing? Describe successes at the dental office. • Discipline What works for you? What do you do when your angel pulls hair or grabs? • Drooling Any tips? • Durable Medical Goods What wheelchair or stroller brands do you recommend? How did you fund your equipment? • Employment/Adult Education Programs Inspire others with successes or detail the challenges and solutions.) I know there are a lot of “older” parents out there! • Eye Issues Share your experiences. • Family-related Topics There are many definitions of “Family” today- share your family and how you meet challenges! How did you cope when a sibling left for college? How do you include your angel in his/her siblings’ activities? How do ensure that your “other” children don’t feel left out? Describe your family’s best vacation. How do you make vacations with your angel more successful? How did you help your angel cope with the loss of a loved one? • Female Issues How did you handle your WWW.ANGELMANTODAY.COM
• angel’s menstrual periods? What method of birth control is used, if any? Explain your decision-making process. • Food What are some healthy food choices that your angel loves? • Heel Cord Surgery Share your experience • Humor How does this help your family cope? • IEP Meetings What strategies have you used to have a successful outcome? How do you overcome feeling intimidated or overwhelmed? • What specifically do you SAY at the onset of the meeting? When things don’t seem to be going well, what have you said or done to get things back on track? • IEP Share the wording of goals that were particularly well-written. Share tips for determining what goals are most important for your angel. • Joggers What brands do you recommend? Are they helpful? • Long Term Planning How did you set up a Special Needs Trust or will? What resources did you use for the trust or other financial planning? How did you locate an attorney? • Male Issues Share your experiences! • Marriage How do you nurture your marriage? Has counseling proved helpful? How do you divide responsibilities? Share your marriage success story to inspire others! • Mealtimes Does your child eat before, during or after the family has meals? Some healthy foods may be difficult for your angel to eat… like salads. How have you handled it? • Obsessive/Compulsive Disorder How do you redirect your angel? What has proved effective? • Orthotics Has your child used them? Share the details! • Orthodontics Share your success stories if your child has had braces! • Photo Books We know that all angels November / December 2014
Angelman Syndrome Foundation
$10 for each Penguin will be donated to the Angelman Syndrome Foundation and Paddy the Penguin will be sent to the Angelman Clinic. Credit Card or PayPal payments accepted. To order or more info contact Linda Roberts at Lindasavon17@gmail.com or call 813-382-8621
A V O N Fundraising
• LOVE photos. What have you created or what have you used to help books be more indestructible! • Respite Workers How do you locate them? How do you train them? How do you evaluate them? • Safety What modifications have you made in your home/yard/car to ensure safety? • Sensory Integration What strategies/therapies have you found helpful? • Siblings What challenges have you faced and what are some solutions? Share how having an angel for a sibling has benefited your child/children? Share a helpful website address for sibling issues or sibling workshops. Have your angel’s sibling share feelings or a special experience! • Sleep Challenges What works for your angel? • Straws How did you teach your angel to drink with a straw? • Surgical Procedures Share your experience. What was done that made the procedure easier or more comfortable for your angel? • Swimming What products does your angel enjoy? What about swim lesson experiences? • Technology What are your favorite apps? What Augmentative or Alternative Communicative Devices have you found to be successful? If technology has proven not to be successful with your angel, how do you and your angel communicate? • Therapies/Lessons Share success stories you have had! • Toilet Training When and how did you start? What strategies worked? What diapers/incontinence products do you recommend? • Toys What are your angel’s favorites? (yoga balls, trampolines, bath toys, etc…) • Visual Memory Share an example! • Vitamins Have any proved helpful? • Walking What aided your angel the most in the process? WWW.ANGELMANTODAY.COM
• Weight Gain How did you adjust your angel’s diet? • Working Outside the Home If you are a single parent who works or if both parents work outside the home, how have you juggled the responsibilities? What are the challenges and solutions? Yes, you can contribute to more than one topic! Please include your name, city and Angelman child’s name and age, if you wish. Please email your submission(s) to: Alice Evans amevans1@mac.com ***Remember: Keep it as concise as possible! (I want you to write freely so I won’t set a word limit, but please know that I may need to do some minor editing.) THE DEADLINE IS: Monday, November 24, 2014. Let’s get this wonderful project up and running as soon as possible! Thank you very much for making the effort to email me with your anecdotes and tips. What a wonderful project to honor Harry’s 100th birthday celebration in 2015! Love and hugs to you all, Alice Evans Mom of angel Whitney, age 33
November / December 2014
Dr. Ron Thibert Answers Your Questions Ron Thibert, DO Director, Angelman Syndrome Clinic Director, Dup15q Center Ronald Thibert, DO, MsPH is a Pediatric Epileptologist with a interest in the treatment of epilepsy in children with autistic spectrum disorders. He is the director of the Angelman Syndrome Clinic and the Dup15q Center for MGHfC and the Lurie Center.
Q: The diet seems so complicated prior to getting the hang of it - so where do we begin? Thibert: The diet is complicated and can be difficult but the important thing is to not get discouraged – it can take as long as 3-6 months to really start working. Dietary therapy should always be done under the supervision of a doctor and dietitian with experience in dietary for epilepsy. There is a list of centers in the US on the Charlie foundation website. So the best way to start is to be seen by a doctor and a dietitian and then make changes gradually.
Q: In your experience, is the LGIT one of the most effective therapeutic diets you have seen? Thibert: Yes, the LGIT (or ketogenic diet) is definitely one of the best options for treating seizures in Angelman syndrome. We have had an ~70% success rate (children with 90-100% seizure reduction) with another ~20% having 50-90% reduction. These rates are higher than any medication but the diet can be difficult to do properly. The 2 diets we use are the LGIT and the ketogenic diet. We typically start with LGIT (unless there is a g-tube) since it is easier to do then convert to the ketogenic diet if needed. There are other diets available but in our experience these are the most effective.
ASK DR. THIBERT Does your Angel have seizures? Are you interested in starting the LGIT, but have questions? Here is your chance to get those questions answered. In the next edition of Angelman Today, Dr. Thibert will answer your questions about the Low Glycemic Index Treatment. There are a few ways you can participate; Email your question to contact@angelmantoday.com Write on our Facebook page or Tag @angelmantoday on Twitter #AskdrT
Holiday
Gifts That Keep Giving -Movie Tickets -Swim Lessons -Hippo Therapy -Music Therapy -Zoo/Science Center annual pass
Apple iPad Mini
Gift Guide
Chewy Tubes
Ball Pit
Neckerchief Click images & shop Amazon!
WWW.ANGELMANTODAY.COM
November / December 2014
GF LGIT Friendly, Gluten Free, Dairy Free, Egg Free Seeds Crackers -2oz of sesame seeds (7g Carbs, 4g fibers total carbs 3g) -2oz of chia seeds (12g Carbs, 11g of fibers, total carbs 1g) -3 oz of flax seeds flour (10 g of carb, 9gr fibers, total carb 1g) -One small apple 15 gr carbs -Strawberries flavor -1/4 cup of water Oven Temp. 200 for about 30 minutes check the consistency. Max likes them crunchy, after 15 minutes flip them over. About 15 crackers less than 1.5 carb per crackers Great with cheese, avocado and eggs mayonnaise :) WWW.ANGELMANTODAY.COM
November / December 2014
Professor David Segal heads a research laboratory at The Genome Center of the University of California Davis. A main focus of the Segal Lab is designing proteins that can bind to DNA and “turn on” or “turn off” the expression of specific genes. Such DNA binding proteins have the potential to be used in applications such as targeted gene expression therapy for conditions with a known genetic basis. For example this approach might allow people with Angelman Syndrome to make up for the loss or inactivation of the UBE3A gene on the chromosome inherited from the mother, by “turning on” or expressing the UBE3A gene inherited from the father. Professor Segal recently co-authored a review article in BMC Neuroscience* entitled The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. The article discusses the use of DNA-binding proteins called artificial transcription factors as potential treatments for Angelman Syndrome. We asked Professor Segal about the technologies described in the review and the implications they could have for people with Angelman Syndrome. What is targeted gene expression therapy? In some types of genetic disease, there are genes that we would either like to turn on or turn off in order to treat the disease. Unfortunately, drugs don’t do this very well. Drugs are good at inhibiting enzymes that carry out chemical reactions in the cell, or binding to receptors on the cell’s surface to block signalling pathways. They usually cannot turn on specific genes. There are also some drugs that act on the general machinery that regulates gene expression. That would be “untargeted” gene expression therapy, because these drugs affect the expression of many genes. My lab believes that if you want to turn specific genes on or off, you should try to understand how nature does this. Nature uses proteins called transcription factors that bind to specific sequences of WWW.ANGELMANTODAY.COM
DNA. In this way, the transcription factors activate or repress just their target gene. We are trying to adopt this same approach to create a “targeted” gene expression therapy for Angelman Syndrome.
Why would Angelman Syndrome be a suitable condition to be treated using targeted gene expression therapy? Angelman Syndrome is caused by loss of expression of the UBE3A gene in the brain which means that the UBE3A protein it codes for is not made. Regulation of UBE3A expression in the brain is unusually complex and the loss of expression can be due to several different types of mutations or errors that occur where UBE3A is located on the maternal chromosome, the chromosome a child inherits from the mother. However, in all cases there is a perfectly good copy of the UBE3A gene on the paternal chromosome, which is inherited from the father. In the brain this copy is normally “silenced” by the expression of yet another gene, called the UBE3A-antisense transcript. UBE3A and the UBE3A-antisense transcript lie in the path of each other, like two trains heading towards each other on the same track. Usually the UBE3A gene is the loser in this contest, so it doesn’t get to make its protein because its path is blocked by expression of UBE3A-antisense transcript. If we can either turn the UBE3A gene on stronger, so that it is more likely the winner, or if we could November / December 2014
turn the UBE3A-antisense transcript down, so that it is more likely the loser, we may be able to restore UBE3A expression in the brain. It is worth mentioning that most other genetic diseases have both copies (maternal and paternal) of the gene mutated, and thus it doesn’t help to turn those genes up or down. In this case, the unusual gene regulation in the region of the UBE3A gene gives us a special opportunity for targeted gene therapy. The use of artificial transcription factors for targeted gene expression therapy is discussed in your article. What are artificial transcription factors? Transcription factors are one of the main tools that nature uses to turn genes on or off. They are proteins that are typically composed of two parts. One part is called an effector domain, which interacts with other proteins in the cell to cause the gene to be turned on or off. The other part is a DNAbinding domain, which can seek out and bind to a specific sequence of DNA and thus bring the effector domain to a specific gene. To make an artificial transcription factor, we steal an effector domain of a natural transcription factor and attach it to a programmable DNA-binding domain. A lot of scientific research has gone into how to make high quality programmable DNAbinding domains, and they are improving all the time. They go by names such as zinc fingers, TALEs and CRISPRs. The result is an artificial transcription factor that can turn on or off whatever gene to which we program it, in the case of Angelman Syndrome this is either UBE3A or the UBE3A-antisense transcript. What advantages do you think they will have over other molecules being used or developed for gene therapy?
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This approach should regulate the gene where it naturally occurs on the chromosome, and there may be some advantages to that. There is a lot about gene regulation that we don’t fully understand. For example, the UBE3A gene actually produces at least three slightly different forms of the UBE3A protein depending on variations in the process that converts the gene sequence into the protein it codes for. Although we think they are all doing pretty much the same thing, some forms of UBE3A protein end up in the cell nucleus and others in different parts of the cell. A traditional gene therapy would introduce a new healthy copy of the gene in a viral vector (a sequence of modified virus DNA) that expresses the gene using its own machinery. Using this method only one form of the protein would be made. Our method uses the cells normal machinery and would allow all the natural forms to be made. Another important lesson we have learned about gene therapy is that dosage matters. Too little gene expression can be bad, but too much can be bad too. For example too much UBE3A expression has been associated with autism. Our approach may offer the ability to tailor the dose of gene expression to the individual, kind of like drug therapies do.
November / December 2014
There are other kinds of therapies that target the chromosomal copy of UBE3A or the UBE3A-antisense transcript, such as the antisense oligonucleotide therapy being pioneered by Dr. Arthur Beaudet¹ at the Baylor College of Medicine. That method uses short, man made sequences of nucleic acids, the building blocks of DNA, to block the expression of specific genes by preventing their proteins being made. It may have similar advantages or different advantages to artificial transcription factors. Ultimately, several methods may be useful, or one method may prove to be much more effective than the others, we will just have to see. In any case, testing several strategies ensures that the Angelman community is always the winner, because they will know that whatever proves most useful will be the best that all of us can do, not just the best that one person can do.
Do you think this type of therapy could offer a treatment for all of the symptoms of Angelman Syndrome?
¹ Editor’s note: Dr. Beaudet’s antisense oligo approach aims to block the UBE3A-antisense transcript and allow for expression of paternal UBE3A.
Since our artificial transcription factor does not normally exist in nature, we are always concerned about an immune response against it. This would probably not cause harmful side effects but could reduce its effectiveness. Also, like drugs, there could be “off-target” effects if the factor were to regulate other genes unintentionally. The issue of side effects is something that we really want to understand before we think about any trials in humans.
Will it be possible to deliver artificial transcription factor therapeutics to specific areas of the brain that are affected in Angelman Syndrome? Our current understanding is that UBE3A expression is lost throughout the brain in Angelman Syndrome. Our preliminary data suggests our artificial transcription factors can become widely distributed in the brain, much more so than any viral vector in use today. However, delivery remains an active area of research for this project, and we will continue to make improvements and incorporate the improvements of others to do the best we can with this.
WWW.ANGELMANTODAY.COM
I don’t think anybody really knows if restoring UBE3A to full activity will fix all the symptoms of Angelman Syndrome. About 70% of affected individuals have a large deletion that removes other genes besides UBE3A. Even though there is still one copy of these genes on the paternal chromosome that is active (unlike the paternal UBE3A, which is silenced), the loss of even one copy of these genes from the maternal chromosome may contribute to some of the neurologic symptoms of Angelman Syndrome. Experiments to understand this better are in progress, and this is just one more thing that we still have to learn. Are there likely to be any side effects to this kind of therapy?
How long could it take before we know whether they might be suitable as a treatment for humans? The researchers and the whole Angelman community are lucky to have two very well funded sources of support in the Angelman Syndrome Foundation and the Foundation for Angelman Syndrome Therapeutics. My work is mostly funded by the latter, and they are very
November / December 2014
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serious about moving things quickly into something that can help people. But, to paraphrase Einstein, science should move as quick as possible, but not quicker. We need to better understand side effects and immune response. We need to examine different dosing regimens and delivery methods. Unfortunately these experiments take time to do correctly. So I can’t make any promises about when we will be ready for clinical trials, I can only promise that I will keep trying. Can you tell us anything else about the research into Angelman Syndrome that your lab has been doing and how it is progressing? We have been developing artificial transcription factors for targeted gene expression therapy of Ube3a in a mouse model of Angelman Syndrome. The factors are based on DNA binding proteins known as zinc finger proteins which recognize and target specific areas of DNA. The factor was designed to turn the Ube3a -antisense transcript down on the paternal chromosome, which we hoped would restore Ube3a expression in the brain. Our preliminary data suggests that we are able to inject this purified factor into mice and it is indeed able to activate expression of UBE3A in the mice brains. This is a very exciting result for us for several reasons. Most injected proteins as well as many drugs are not able to cross the blood-brain barrier, a membrane of tightly packed cells that protects the brain from foreign substances in the blood. However, our engineered protein seems able to get in. It also seems to activate the Ube3a gene, and by using a special antibody that binds to the area of interest we are fairly convinced that it is the silenced paternal copy that is getting turned on. I say “seems” and “suggests” because we have not published these findings yet, which means our work has not been peer reviewed by other scientists.
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We want, and the community should also want, that everyone can look at our work and agree that it is true. As a scientist I need to be the biggest skeptic of my own work, and part of that is carefully building proof that what we think is happening is actually happening. We hope to publish the first chapter of our story soon. However, there will be more chapters because there are still many things we need to learn before we can think about trying to activate UBE3A in a person. We need to understand the potential side effects of our treatment, and if any genes besides UBE3A are affected. We need to know how long the activation lasts after treatment. And of course we need to know what affect this treatment has on the behaviour of the Angelman mouse. All those studies are also in progress right now. One of the things that we and others have been learning is that the symptoms that our mouse model of Angelman Syndrome display is a lot milder than what we typically see in people. We have some ideas about why that might be, and with the help of the Foundation for Angelman Syndrome Therapeutics (FAST), we are building better rodent models of the disease. If successful, these new models will help us and the rest of the research community to test drugs and develop new targeted therapies. I think the advances that have been made in just the past few years, Dr. Ben Philpot’s discovery of a Ube3a-activating drug, Dr. Ed Weeber’s gene therapy experiments restoring Ube3a expression in mice, and Dr. Art Beaudet’s antisense termination experiments and oligonuclotide therapy, are all very exciting and certainly seem to offer hope for better treatments. I have certainly been inspired by their work and the work and support of the broader Angelman Syndrome community, and I am glad to think that I might be able to contribute to that. * Bailus and Segal: The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. BMC Neuroscience 2014 15:76. November / December 2014
Government Benefits and Angelman Syndrome Eric W. Wright, Ed. D.
Families often struggle to find the appropriate resources when it comes to meeting the needs of individuals with Angelman Syndrome. I remember nearly six years ago when my wife and I were contemplating selling our house because we were so confused on how we were going to care for our daughter and address our daughters needs related to mobility. Part of me was worried about how we would pay for medication, therapy, diet, and preschool. When the dust of the new diagnoses settled, we started on our path to find resources. This would be a piece of cake, considering my work as a Family Resource Center Coordinator for the 16th largest school district in the United States. What I quickly learned, was finding resources was harder than I expected. Now, six years later and having served back to back Governor appointments on the Kentucky Medicaid and Developmental Disabilities Councils, I still at times feel like a novice. Oh how resources change, daily! Luckily, I came across individuals who helped us navigate the path to finding government benefits which in turn helped us stabilize our family. My goal as a member of the Angelman Syndrome Family Resource Team, is to help Angelman Families learn and connect to the right people within their respective states. This is a challenge because each state is different in the approach to benefits. So let’s get started with the basics.
DEVELOPMENTAL DISABILITY AND ANGELMAN SYNDROME Serving on the Developmental Disabilities Council proved to be one of the most enlightening experiences of my life. I was passionate about my
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service as a father of a child with Angelman Syndrome. Eventually my passion led to a leadership role on the council and an appointment to our state’s Medicaid Council. This is when I learned that Angelman Syndrome automatically meets the Federal Governments definition of Developmental Disability. Specifically, Developmental Disability is defined as a severe, chronic disability which: • Is attributable to a mental or physical impairment or combination of mental and physical impairments, and • Is manifested before the person attains the age 22, and • Is likely to continue indefinitely, and • Results in substantial functional limitations in three or more of the following areas of major life activity: a) self-care, learning, self-direction, communication, mobility, capacity of independent living, and economic self-sufficiency. Quickly, I learned there were Government benefits which relate to having a child with Angelman Syndrome. First, I learned the Social Security Administration had two programs Social Security Disability Insurance (SSDI) and Supplemental Security Income (SSI). SSDI is only available to workers with enough “work credits” and SSI disability benefits are available to low-income individuals regardless of having work credits.
November / December 2014
Government Benefits and Angelman Syndrome
SSDI provides income replacement for eligible individuals who are unable to work due to longterm injury or illness. These benefits are transferrable to children, particularly children with disabilities. Most SSDI recipients receive between $300 and $2,200 per month in benefits with the average monthly payment in 2014, being $1,148 and the maximum being $2,642. Additionally, after 24 months of receiving a disability benefit, Medicare insurance becomes active. Unlike SSDI, SSI is strictly a need-based program. To be eligible, you must have less than $2,000 in assets if single and less than $3,000 if married. In 2014, minimum SSI benefits are $721 per month for an individual and $1,082 per month for couples. Unlike SSDI, each state has its own requirements and guidelines regarding SSI eligibility. FEDERAL AND STATE MEDICAID PROGRAMS (WAIVERS)
Each state determines how to use federal funds to develop a state Medicaid plan. These plans combine federal funds with state funds to operate the Medicaid programs. States must adhere to certain federal guidelines in the implementation of Medicaid programs. Individuals with Angelman Syndrome qualify for Medicaid Waiver programs. These programs are offered through Home and Community Based services waivers, (i.e., 1915 (c) waivers). For more information on home and community based services visit the following website: http://www.medicaid.gov/Medicaid-CHIPInformation/By-Topics/Waivers/Home-andCommunity-Based-1915-c-Waivers.html States review level of care (LOC) for families and individuals with Angelman Syndrome based on the age and level of support needed. It is important to get on each of the various level (i.e., level 1, level 2, level 3) waiting lists as many states have extensive waits. I cannot emphasis enough the importance of getting on a waiting list as soon as possible.
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Also, you can receive waiver supports and services while “waiting” for more comprehensive waiver services (e.g., residential waivers). While I mention waivers by levels (i.e., 1, 2, 3), many states use various names for waivers and it is important to do your research.
Eric W. Wright, Ed. D.
Waivers provide most, if not all of the following supports: a.) respite care, b.) personal care support, and c.) attendant care. Services provided by higher level waivers (e.g., level 2) may include: a.) community living supports, b.) job coaches, c.) case managers, d.) environmental supports (i.e., home modifications). Services for the highest level typically include all of the above services with the addition of residential supports for 24/7 residential care including staffed residence and group homes. The focus of Home and Community Based Services Waivers is to provide support and services within the individual’s community. There are typically two ways to receive supports and services: a) traditional provider – an agency who coordinates care along with all supports and services, and b) self-directed option – which allows the individual and/or representative to coordinate supports through utilizing their own budgets to hire, train, and/or fire individuals within their trusted community (i.e., family, friends, neighbors). The purpose of “selfdirected” options is to allow the individual, with family support, to direct services which impact their quality of life. The individual with Angelman Syndrome qualifies for Waiver programs based on a state-by-state criteria. Some states apply the 300% above Federal Poverty Rate (e.g., family of five = $83,730). Another way to qualify is by medical/institutional deeming in which states consider a child under 18 as if they are in an ICF/MR facility (i.e., institution) and do not count the parents income or assets. Guardianship becomes very important at age 18-21, depending on state, which impacts the adult with Angelman Syndrome in receiving waiver services.
November / December 2014
Government Benefits and Angelman Syndrome
WITH A MEDICAID WAIVER COMES OTHER MEDICAID BENEFITS
Once an individual becomes eligible for any level of a Home and Community Based Services 1915 (c) waiver, other Medicaid benefits could be available. Each state has a State Medicaid Plan which determines how to spend the combined federal and state Medicaid funds. However, the federal government has mandatory federal Medicaid benefits which include: a.) physician services, b.) hospital services, c.) laboratory and x-ray services, d.) EPSDT services for children under 21, e.) medical and surgical dental services, f.) rural and federally-qualified health center services. Optionally, states may or may not provide the following a.) prescription drugs, b.) clinical services, c.) dental and vision supplies, d.) prosthetic devices, and e.) physical therapy and rehab services.
EPSDT IS A VERY HELPFUL MEDICAID RESOURCE FOR THOSE UNDER 21 With Early, Periodic, Screening, Diagnosis, Treatment (EPSDT), parents of Angelman Syndrome children can gain access to a multitude of supports and services. The purpose of EPSDT is to prevent the onset of worsening of the disability and illness among children.
The increase of coverage is broad and can include a myriad of services to help a child with Angelman Syndrome having Medicaid. Each state is required to implement an EPSDT program.
GET HIPP BECAUSE IT COULD PAY
Eric W. Wright, Ed. D.
As part of the Omnibus Budget Reconciliation Act of 1990 (OBRA-90), states were authorized to implement HIPP (Health Insurance Premium Payment Programs). The HIPP program allows a Medicaid recipient and/or family to receive private insurance premium reimbursements in order to help the individual with Medicaid maintain primary insurance coverage. For this to happen, the Medicaid recipient must be deemed “cost effective” by the HIPP program within the individual’s state. A FINAL WORD “ADVOCATE”! Each state as part of the DD Act of 1963, receives federal funding for key state advocacy, protection, and education agencies. If you need help navigating the system of your state, I suggest you contact the state Council on Developmental Disabilities, University Centers for Excellence in Developmental Disabilities (UCEDD), or the Protection and Advocacy agency in your respective state. These agencies along with our resource team are here to help you with the above resources.
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November / December 2014
What the Gala experience means for us So my countdown to the 2014 gala is officially underway. Tickets? Check. Hotel? Check. Dress? Well, that usually happens a week before when I have determined I have no more time to lose weight before shopping. I am fortunate that this year will be my third year attending the gala, and it is just under three years since my son Logan (5 del+) was diagnosed. Last year I was lucky enough to win a spot in the much-anticipated Colin Farrell meet and greet. As I stood in line anxiously for Paula to introduce us, waiting and watching the other families, I whispered to my husband, “that’s so and so, she has a five year old too, I recognize them from Facebook” and “they have a teenage daughter and live in California.” So many people around us I felt like I knew but had never met. Reaching the front of the line, the meet and greet entailed me smiling and nodding while my husband Todd chatted easily with Colin about our son. My lasting impression is that Colin is genuine, kind and truly cares and loves our kids. WWW.ANGELMANTODAY.COM
-By Karen Hill
The most powerful moment of last year’s gala for me was sitting in a room full of other parents, relatives and friends. You know - the people you don’t have to explain anything about your child to and that are not going to tell you that you look tired. This feeling is amplified as everyone attending quietly watches the Gala slideshow of all the individuals with Angelman Syndrome. It is telling how close I feel to the Angelman community that I can name so many of these children yet have never met them or their parents in real life. It’s exciting to sit at the table and wonder how many of the people you will get to meet. I am so grateful to the FAST board and especially to Paula Evans for providing this opportunity. This year I look forward to hearing the latest from the FIRE initiative, actually taking a night off with my husband and getting to meet more amazing parents. I also really hope that this year my nonpregnant self will make it to my first after party! November / December 2014
The Foundation for Angelman Syndrome Therapeutics is excited to announce the 2014 Global Summit on Angelman Syndrome This two-day event includes a science seminar on Friday, December 5, 2014, an educational seminar Saturday afternoon, December 6, 2014 and a starstudded, fundraising Gala on Saturday evening, December 6, 2014. The event takes place at the Chicago Hyatt Regency located at 151 East Upper Wacker Drive, Chicago, Illinois, 60601. Admittance to the Science and Educational Seminars is complimentary. Tickets to the Gala are $150.00 per person. The 2014 FAST Gala is a formal, twenty-one and older event. FAST has secured a discounted room rate of $114.00 per night at the Hyatt Regency; rate is valid until November 14, 2014. To download the Corporate Sponsorship form, click here. To purchase tickets or tables to the event, click here. To purchase Corporate Sponsorship of the event, click here. To book hotel room(s), click here. To download an Auction/Raffle Donation Request form, click here.
Seizure Seminar - Featured Speakers: Dr. Anne Anderson, Associate Professor, Departments of Pediatrics, Neurology and Neurosciences, Baylor College of Medicine and Medical Director, Epilepsy Monitoring Unit, Texas Children's Hospital. Dr. Douglas Nordli Jr., Ann & Robert H. Lurie Children's Hospital of Chicago, Division Head, Epilepsy Center; Attending Physician, Neurology and Epilepsy Center; Lorna S. and James P. Langdon Chair of Pediatric Epilepsy; Fellowship Director for the Epilepsy Program, Northwestern McGaw Medical Center; Professor of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine.
Topics will include: dietary treatment options for epilepsy, cannabidiol (CBD) in the treatment of epilepsy, non-convulsive status epilepticus, best practices for treatment of seizures in Angelman Syndrome.
The full event schedule is as follows:
12:00 Noon - 1:00 PM - Complimentary Lunch Served
Friday, December 5, 2014 10:00 AM to 12:00 Noon
1:00 PM - 5:00 PM - Science Seminar - Featured Speakers:
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November / December 2014
Dr. Edwin Weeber, Professor, Molecular Pharmacology & Physiology, University of South Florida. Chief Scientific Officer, USF Health Byrd Alzheimer's Institute, University of South Florida. Director, Murine Neurobehavioral Testing Facility, University of South Florida. Primary Investigator, FAST Integrative Research Environment (FIRE) Initiative.
Saturday, December 6, 2014 10:00 AM - 11:30AM - Meet the Scientists - Open Q&A on AS Research
Dr. Anne Anderson, Principal Investigator, Gordon and Mary Cain Pediatric Neurology Research Foundation Laboratories, Texas Children's Hospital. Associate Professor, Departments of Pediatrics, Neurology and Neurosciences, Baylor College of Medicine. Co-Investigator, FAST Integrative Research Environment (FIRE) Initiative.
Dr. Caroline Musselwhite, CCC-SLP, Literacy and Assistive Technology Specialist
Dr. David Segal, Associate Director of Genomics, UC Davis Genome Center. Associate Professor, Department of Biochemistry and Molecular Medicine, School of Medicine, M.I.N.D. Institute. Associate Professor, Department of Pharmacology, School of Medicine. Investigator, FAST Integrative Research Environment (FIRE) Initiative. Dr. Scott Dindot, Assistant Professor, Department of Veterinary Pathobiology, Texas A&M University. Investigator, FAST Integrative Research Environment (FIRE) Initiative. Dr. Sarah Black, Postdoctoral Research Associate, Texas A&M University. Topics will include: Drug discovery, Artificial Transcription Factors, novel therapeutics in the treatment of Angelman Syndrome and much, much more. 5:30 PM - 6:30 PM - New Animal Models in Angelman Syndrome - Featured Speakers: Dr. Jorge Piedrahita, Professor of Genomics, North Carolina State University. Director, North Carolina State University Center for Comparative Medicine and Translational Research. Dr. Scott Dindot, Assistant Professor, Department of Veterinary Pathobiology, Texas A&M University. Investigator, FAST Integrative Research Environment (FIRE) Initiative
Dr. David Segal, Associate Director of Genomics, UC Davis Genome Center.
1:00 PM - 4:00 PM - Literacy in Angelman Syndrome Workshop - Featured Speakers: Erin Sheldon, M.Ed. Literacy and Assistive Technology Specialist
Dr. Gretchen Hanser, OT, Literacy and Assistive Technology Specialist Focus: An overview session will demonstrate practices used successfully to develop literacy and communication skills in a range of students with Angelman Syndrome. Follow-up workshops for attendees will then provide hands on Focus: An overview session will demonstrate practices used successfully to develop literacy and communication skills in a range of students with Angelman Syndrome. Follow-up workshops for attendees will then provide hands on instruction in how we can engage our students in a variety of literacy activities and technologies. Attendees should bring iDevices if they have one, but this is not required. 6:00 PM - Midnight - 2014 FAST Gala - Grand Ballroom - Featured Guests: Colin Farrell, critically acclaimed actor and Golden Globe winner. Films include Phone Booth, In Bruges, Crazy Heart, Horrible Bosses, and Saving Mr. Banks. Jai Courtney, critically acclaimed actor. Films include Jack Reacher, A Good Day to Die Hard, Divergent and soon to be released Unbroken. Retta, actress and comedienne best known for her role on NBC's Parks and Recreation. Josh Peck, actor known for his role in Nickelodeon’s Drake & Josh. Films include Ice Age and Red Dawn. Tickets to the 2014 FAST Gala include a cocktail hour from 6:00 PM - 7:00 PM, a formal three-course dinner from 7:00 PM - 8:30 PM, celebrity guest speakers, keynote speaker, silent auction and raffle and entertainment provided by The Shannon Rovers and 7th Heaven Band. **The Science Seminar schedule is subject to changes. FAST will announce any changes made, but please check back here prior to the event****
Angels in Action Celebrating the Abilities of our Angels By Suki Sandhu, Mom to Sydney age 19 We did not receive an official diagnosis for Sydney until she was 15 years old. I always knew there was something more than just being developmentally delayed. Physician after Physician did not know. The diagnosis was not going to change anything about Sydney, it was for me. It helped me understand and was therapeutic for my 15 years of unanswered questions.
To do my part and help raise awareness, I had the opportunity to speak with the medical staff of Great Ormond Street Hospital and reminded them that the diagnosis is as important for the parents. Sydney loves going to the movies, we take her at least once a month. She loves musicals on Broadway, searching YouTube videos on her iPad, going to the park with a zip wire and walking the dog.
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Enter a picture of your loved one with Angelman Syndrome. Get your friends a family voting and they could be on the January Cover of Angelman Today. Watch our Facebook page for coming details.
2014 Cover
CONTRIBUTORS ---------------------
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Professor David Segal
Dr. Ron Thibert
Eric W. Wright, Ed.D
Sybille Kraft Bellamy
Additional Contributors: All of the Angelman and associated foundations across the globe
Kathy Parker Karen Hill Suki Sandhu Shari Caspert
Thank you! A big thanks to all of the contributors that help bring you Angelman Today!
Angelman Today Supporters: Warner’s Corner Toys www.warnerscornertoys.com Linda Roberts www.youravon.com/lindaroberts Shari Caspert www.youngliving4specialneeds.com
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families. It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers. The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions, products or procedures that appear on this website or online magazine. All matters regarding your health should be supervised by a licensed health care physician. Copyright 2014 Angelman Today, LLC. All rights reserved worldwide.
GF
Almond Mousse Almond mousse with sunflower seeds, pumpkins seeds and hemp oil.
Only 10 minutes! So good! Perfect for 3.1 MAD or LGIT! WWW.ANGELMANTODAY.COM
- One half cup of heavy cream whipped - One tablespoon of almond butter - A couple of drop of stevia vanilla flavor. - Keep in the freezer for 15 minutes - Serve with seeds toasted in coconut oil and one teaspoon of hemp oil . Enjoy ! November / December 2014
La Historia del Síndrome de Angelman El Dr. Harry Angelman fue un médico Inglés quien identificó lo que hoy en día se llama Síndrome de Angelman. Nació en Birkenhead, Inglaterra. Le fascinaba el idioma y la cultura de Italia.
El fue el primero quien observó trés niños no relacionados quienes demostraban síntomas similares – atrasos severos intelectuales, un modo de andar que era espasmódico y rígido, ausencia del hablar, convulsiones, y una disposición contento. Luego, duranted unas vacaciones en Italia, descubrió una pintura llamada “Un Niño con una Marioneta,” creado por el artista del Renascimiento Giovanni Francesco Caroto, en el museo Castelvecchio en Verona. La pintura le hizo pensar en los niños que eran sus pacientes, y le condujo a publicar un artículo profesional en el año 1965 que describía lo que el llamaba “Niños Marionetas.” En aquel momento la importancia de su artículo no fue reconocido como algo importante.
Dr. Harry Angelman 1915 – 1996
No pasó nada mas hasta Charles A. Williams y Jaime L. Frias del departamento de Pedíatra, Divisíon de Genética, de la Universidad de Florida Colegio de Medicina de Gainesville, Florida, sometieron un artículo a la Revista Americana de Genética Médica explicando estudios de séis pacientes, comparando sus datos con los de informes previos – incluyendo atrasos intelectuales severos, el andar como un “marioneta,” anormalidades cranio-faciales, y espisodios frecuentes de risas. De repente, se notó que eso era mucho más común de lo que anteriormente se creía. Ellos propusieron ponerle el nombre de Síndrome de Angelman, en honor del Dr. Harry Angelman. WWW.ANGELMANTODAY.COM
November / December 2014
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The History of Angelman Syndrome Dr. Harry Angelman was an English physician who identified what is now known as Angelman Syndrome. Dr. Angelman was born in Birkenhead, England. He was an enthusiast for the language and country of Italy. He first observed three children who were unrelated but showed similar symptoms of severe intellectual delay, stiff, jerky gait, lack of speech, seizures, motor disorders and happy demeanors. Then, while vacationing in Italy, he observed an oil painting called… A Boy with a Puppet by the renaissance artist Giovanni Francesco Caroto at the Castelvecchio museum in Verona. Reminded of the children, Dr. Angelman published a paper in 1965 that described what he called “puppet children”. At this time, his paper was not immediately recognized as important.
Dr. Harry Angelman 1915 – 1996
It wasn’t until 1982, when Charles A. Williams and Jaime L. Frias of the department of Pediatrics, Division of Genetics, University of Florida College of Medicine, Gainesville submitted a paper to the American Journal of Medical Genetics reporting studies of six patients and comparing their data to those from previous reports - severe developmental delay, “puppet-like” gait, craniofacial abnormalities, and frequent episodes of laughter that it became clear the syndrome was more common than previously thought. They proposed the name of this disorder be changed to Angelman Syndrome.
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November / December 2014
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