A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
See the complete list of topics.
AAC & Technology | Acid Reflux | Adult Guardianship | Adult Health Issues | Adult Programs | Advocacy | AFO | Angelman Syndrome | Angelman Syndrome Foundation | Angelman Today | Animals | Anxiety | AS Clinics | ASF Family Fund | Ataxia | Audrey Angelman | Dr. Harry Angelman | Autism-like Features
AAC & Technology
See the Resources & Education section and select AAC & Technology for a list of resources.
We went all in on the PODD system back in 2015. I went to PODD training bought the PODD system discs, Boardmaker discs, (waterproof pages, bookbinding machine, book covers, spiral connectors etc.) and made several books. I also used 3-ring binders and made a couple books that had a built-in stands.
AS Family Member
I really tried with PODD. I found it very challenging. I found my daughter did not have good fine motor control or the ability to isolate her pointer finger, so she would rake her hand across the page. In training they tell you to presume competence and to respond to what they point to, but I couldn’t usually tell what she was trying to point to, so it was very frustrating for her and me.
AS Family Member
She seemed to like videos on YouTube for kids. Roller coasters, kids making things, music videos, Kidz Bop, Masha and the Bear, Baby Shark, etc.
AS Family Member
I spoke with her school SLP and we thought trying GoTalk with her might be more motivating, as you press the button and get a verbal response. Also, the sections are in frames, so it isolates each picture. She responded better to the higher tech, interactive system; however, the record button on the back proved to be to too much of a distraction, so she would end up erasing the recordings. You also have to push down pretty firmly on each box, and she did not have the fine motor control to isolate and push with purpose.
AS Family Member
When PODD was available as an app on the iPad, I bought it. I bought two iPad pros, one for her to use and one for me to model with her. I sent it to school with her, her SpEd teacher went to PODD training and was having success with her, but her teacher was the only person that understood it and she couldn’t be with Caroline all the time at school. The school used Proloquo2go and there was resistance to learning a different way. Since I had a very hard time modeling the program with her and found the way it was organized confusing, I didn’t push to have them learn PODD.
AS Family Member
A friend, Sandra, had LAMP on an iPad for her Angel. We tried it, under her account, but that account was set up with too many small icons. You could reduce the amount of icons that you could see on the page by hiding them, but because it was set up for her daughter, we couldn’t change the amount of the boxes on the page. My daughter has vision issues, so this did not work for us.
AS Family Member
Last Christmas (2018) we started Caroline on the Proloquo2go system that the school uses. We have had much more success with this system. I understand and can navigate it very easily, so I use it all the time at home which reinforces to Caroline that this is her voice.
AS Family Member
Bottom line, try many different options, see what works best for your child and your family. We have the iPads for her to talk, but we have laminated pages with Velcro pictures on them in the shower, for the pool, for outside water play, etc. Also, YOU have to learn and use the system. It won’t happen if only the teachers or therapists are working with your child on the program. YOU must reinforce the learning at home. It takes time…..but it is so worth it to give your Angel the ability to make their own choices and to be able to communicate their needs to a stranger in the event of an emergency.
Donna, sdangelmom@gmail.com, angel Caroline 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
Acid Reflux (Also see G – Gerd)
Some parents of angels use medications to treat GERD (gastroesophageal reflux disease) every morning. A few examples are: Nexium, Protonix, Prilosec, and Prevacid. Always get advice from your doctor!
Avoiding dairy is one of the best treatments for my son’s acid reflux.
AS Family Member
Our son’s acid reflux became worse as he got older. He finally developed a gastro bleed incident and was started on Nexium, which he takes now to avoid a recurrence. He gags easily and tends to vomit when he has nasal discharge into his throat.
Susan Pike
Our saughter has had problems with digestion and has been diagnosed with gastroparesis. Smaller and frequent meals seem to help. We give her no carbonated drinks or acidic food.
Linda Cox
Our son had reflux when he was born until he was five months old. He slept with a special pillow during that time and I also used a special kind of formula called Similac Allimentum.
Brisia Barba Chihuahua, México, angel Mario, age 9
Adult Guardianship
See National Guardianship Association Affiliates by State
Watch the ASF Educational Webinar on Guardianship, presented by Dr. Eric Wright.
On my angel’s 18th birthday we went to court to become our daughter’s legal guardians. This is a legal necessity with HIPAA and dealing with governmental agencies on our young adults’ behalf. Make SURE to check all designated beneficiaries for all insurance policies etc… so as not to negate any governmental benefits from an inheritance, etc… This is also where a special needs trust is very beneficial for our angels’ future wellbeing.
Kathy Eichost Fort Wayne, Indiana angel Juliana (UPD,) age 28
Adult Health Issues
See the American Journal of Medical Genetics paper.
Anna M. Larson Julianna E. Shinnick Elias A. Shaaya Elizabeth A. Thiele Ronald L. Thibert
First published: 26 November 2014 https://doi.org/10.1002/ajmg.a.36864 Cited by: 21
Dr. Ron Thibert, the well-known Angelman syndrome clinician and champion of the low-glycemic index dietary seizure treatment, and Dr. Anna Larson, both of Massachusetts General Hospital, published the findings from their clinical investigation into health issues that adults with AS experience.
The research team conducted standardized phone interviews with caregivers for 110 adolescents and adults with AS aged 16 to 50 years old. The impact of age, gender, and genotype on specific outcomes in neurology, orthopedics, internal medicine, and psychiatry were investigated, but did not address treatment. Further work should continue to refine the observable characteristics of older individuals with AS. Primary areas of clinical management identified in this research include seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety.
The following is a summary of their findings.
Active Seizures
- Present in 41% of individuals
- Epilepsy severity may assume a bimodal age distribution: seizures are typically most severe in early childhood but may recur in adulthood
Sleep Dysfunction
- Present in 72% of individuals
- Late adolescent and adult sleep patterns are improved when compared to the degree of sleep dysfunction present during infancy and childhood
- However, prevalence of poor sleep in adults remains quite high
Significant Constipation
- Present in 85% of individuals
Overweight / Obesity
- Present in 32% of individuals, with obesity disproportionately affecting women
Scoliosis
- Affects 50% of individuals with an average age of diagnosis at 12 years old
- 24% of those diagnosed with scoliosis required surgery, an intervention disproportionately affecting men
Walking
- 68% are able to walk independently
Speaking
- 13% are able to speak 5 or more words
Self-Injurious Behavior
- 52% of individuals exhibit self-injurious behavior
Adult Programs
When selecting an adult day program for your angel, don’t be afraid to look outside your community. Tour as many programs as you can before making a selection. Know that your decision does not have to be final either. If at any point, you don’t feel comfortable, you have the right to change programs. Also, make friends with the staff members at the program. They will be your best allies into your Angel’s day.
Sandra, sandra1rivero.gmail.com, angel Amanda, age 23, UPD
Our daughter attends a day program for adults. We quickly learned at the beginning of the process that NO program we visited met our very high expectations. However, we chose the best one we could find and came to realize that the benefits far outweighed any reservations we had. The key is to ensure that your child has an exceptional teacher or aide and communicates daily in a “journal”. I also write daily uplifting notes and convey our gratitude. These underpaid professionals work extremely hard!
Alice, sandiegoasfwalk@gmail.com, Whitney, age 38, Deletion+ Class 1
Advocacy
Contact ASF Family Resource Team Member: Dr. Eric Wright
Resources and Services specific to State Waivers, Government Assistance, Insurance and Advocacy.
People listen to you better when you are rational, realistic and appreciative of others’ hard work. When you attack people in order to advocate for your angel, it never ends well for your angel.
AS Family Member
You are your own best advocate. Do not stop asking questions! Some of the doctors we now have are a neurologist, a behavioral therapist, a geneticist, a regular pediatrician, a gastroenterologist, a physical therapist, an occupational therapist, and a speech therapist. No one told us we should be seeing some of these doctors. We had to figure it out on our own. It really does take a village to raise a child with Angelman syndrome! Ask questions!
Elise
Be an advocate for your child in the community. If a “typical” child says or does something kind to your angel, praise the child by saying, “That is so kind of you. You are a wonderful boy/girl and (your angel’s name) really seems to like you!” Other children will hear that and emulate this kindness. Use encounters with others as “teachable moments”. Be a role model. Smile, make eye contact, and set the stage for others to approach your angel with ease.
Alice and Mark, sandiegasfwalk@gmail.com angel Whitney, age 38
Be the squeaky wheel. YOU ARE YOUR CHILDS VOICE!
Erin, erinctallant@gmail.com, angel, Gillie Mae, age 2.5
AFO (Ankle-Foot Orthotic)
AFO stands for “ankle-foot orthotic”. Orthotics are inserts for shoes that control abnormal foot function. They are used to realign the arch structure, realign in-toeing and out-toeing problems, and control the foot-ankle complex. AFO’s can help improve mobility and balance. For further information speak with a physical therapist or orthopedist.
My son was recommended for AFOs a few months ago. He’s 2 (deletion +). They really do seem to help give him more support. Also I highly recommend ikiki shoes for young children using AFO’s. There so much easier getting on and off feet.
Sarah j.sorrels09@blueriver.net, angel Brantley, age 2, Del+
We struggled with shoes to fit over the AFOs and could never find anything that worked well. We finally bought a pair of Hatchbacks that are designed to fit over AFOs. They were more expensive but they lasted a lot longer and were safer for our daughter to wear.
Christine and Giovanni; Logan, Utah; angel Chiara
My son has to wear braces for the low tone in his ankles. The best AFOs we have found are SureSteps. They are cut in a way that allows my son to use the ball of his feet; they are not too rigid; and they fit in most regular shoes (with the inseam removed).
Michelle
Shoes that fit AFOs for kids: Plae, Billy’s, and ikiki.
Tatiana Ortiz-Rubio, angel Alina, age 4, UBE3A Mutation
We have found that the “school uniform” socks in the girl’s section at Walmart work wonders under SMO/AFOs. They come in packs of 3; white, black, & navy (so they are unisex)! They’re thin, soft, breathable, very affordable, & they come up to the knee so that the AFO doesn’t rub against any skin.
Shayla shaylakosborne@gmail.com, angel Dawson, age 7, Del+
Angelman Syndrome (see also Diagnostic Criteria)
Named after Dr. Harry Angelman, an English physician who discovered the syndrome, Angelman syndrome (AS) is a rare neuro-genetic disorder. It occurs in one in 15,000 live births. Angelman syndrome is often misdiagnosed as cerebral palsy or autism due to lack of awareness.
Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping. Other features can include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis).
The life expectancy of people with this condition appears to be nearly normal. Individuals with Angelman syndrome will require life-long care. Because of its genetic relationship to autism and other disorders, many researchers believe that curing Angelman syndrome will lead to cures for similar disorders. Angelman syndrome research is on the cusp of potential treatments to improve the debilitating symptoms of Angelman syndrome.
Angelman Syndrome Foundation (ASF)
See The History of the Angelman syndrome and the Angelman Syndrome Foundation.
Find information about the Windy City Angels Chicago Marathon team.
Find information about the annual ASF Walk fundraiser.
ASF Social Media Channels
Facebook: https://www.facebook.com/AngelmanSyndromeFoundation
Twitter: https://twitter.com/angelman
Instagram: https://www.instagram.com/angelman_asf/
Pinterest: https://www.pinterest.com/angelmansyndfdn/
YouTube: https://www.youtube.com/user/AngelmanSyndromeFdn
The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.
The Angelman Syndrome Foundation has received a 4-Star rating from Charity Navigator for demonstrating strong financial health and commitment to accountability and transparency. Four stars is Charity Navigator’s highest possible rating and indicates that the ASF adheres to sector best practices, executes its mission in a financially efficient way and exceeds industry standards and outperforms most charities in our area of work.
ASF is a national 501(c)(3) organization dedicated to helping families, care providers and medical professionals arm themselves with as much helpful information about Angelman syndrome as possible. The ASF hosts a biennial Family Conference which gives you the opportunity to hear the latest research results, therapeutic techniques, educational strategies, long-term planning and financial-planning information. The conference also offers many networking opportunities to talk to families that are dealing with the same issues you might be having, while caring for an individual with Angelman syndrome.
The ASF funds AS research through grants to researchers who pursue promising avenues of discovery. Since 1996, the ASF has been funding research grants. See ASF Funded Research for more information.
More information from the ASF
The Angelman Syndrome Foundation Board of Directors is made up by a diverse representation of backgrounds, skills and talents and at present, totals 14 members from across the United States. All but two directors have an individual with Angelman syndrome within their immediate family. See ASF Staff and Board of Directors
ASF Programs, Services and Supports
The Angelman Syndrome Foundation provides information and resources so that families of individuals with Angelman syndrome can better manage the ages, stages and special needs of those with the syndrome throughout their lifespan. This is accomplished through a variety of programs, centers of excellence, educational opportunities, special events and research.
Core Programs
Angelman Syndrome Behavioral Series
This web-based training series was developed to help families deal with the daily challenging and often aggressive behaviors that people with Angelman syndrome exhibit. Prepared by a panel of clinical experts in AS (including psychology, psychiatry, neurology, epilepsy and communication) the series provides access to invaluable help and behavioral information from any device, at any time, any place and at no cost to the user.
ASF Educational Webinar Series
Webinars by AS experts on AS-specific topics, including but not limited to research updates, clinical developments and help for daily living and management of AS is available and accessible to all AS families 24/7/365 and around the world.
Communication Training Series
The Communication Training Series was developed to break down often very complex communication training and instruction into smaller, simpler parts, where care providers and their support teams can go at their own pace as they are working with their special person with AS. The series includes training tools and how to use picture symbols, includes downloadable picture and symbol display templates and step-by-step instructions to start and continue a communication program at home and school, no matter the individual’s age, skill level or location. The ASF Communication Series was developed by a leading team of experienced communication experts in AS and other non-verbal populations.
ASF Family Resource Team
An invaluable resource to AS families, the ASF Family Resource Team is a group of compassionate AS experts who have a child or family member with AS. These individuals serve as a lifeline for AS families, providing guidance and understanding on topics such as health, insurance, finance, education, transportation, technology, durable medical goods and equipment and much more. Resources at a local, state and federal level are provided to AS families across the US.
15q Clinical Research Network
The Angelman Syndrome Foundation founded the AS Clinics to provide individuals with Angelman syndrome the specialized, comprehensive medical care they need, from birth through adulthood. The ASF has partnered with world-class, leading medical and research institutions in the US and internationally to establish AS Clinics to provide comprehensive medical care individuals with AS need, all in one location. Each clinic has its own unique capabilities that leverage a variety of expertise and specialized care available from each partnering organization. See the list of locations.
Additionally, all clinics in the ASF AS Clinic Network are working together to establish standards of care for treatment of AS. Clinicians often consult with other clinicians at other network clinics and work together to find the best possible outcomes for their patients.
Beyond specialized medical care, the ASF currently funds—and will continue to fund—research that occurs at clinic sites. Data gathered from the AS Clinics is, and will continue to be, used to drive research for viable treatments and a cure for AS. The 15q Clinical Research Network is THE only clinical framework established to support future clinical trials when they become available by having established sites with AS experts and patients in place. This has always been a part of the ASF research strategic roadmap. The 15q Clinical Research Network is intentional in its abilities to provide high-quality clinical care today, across the AS lifespan, as well as be THE platform for AS clinic trials.
We see Dr Thibert in the Angelman clinic at Boston Mass General. He is one of the most knowledgeable physicians when it comes to AS.
AS Family Member
Education – Annual Research Symposium and Biennial Family Conference
Since 1991, the Angelman Syndrome Foundation has sponsored 15 Family Conferences and 18 scientific/research symposia that bring together the foremost authorities on Angelman syndrome.
The world’s premier research symposia are the proverbial “think tank” that attracts researchers from around the globe who gather and share findings on the latest advances in the field of Angelman syndrome. Rarely seen in scientific meetings, and similar to Gordon-style meetings, the ASF research symposia bring the brightest and best researchers together to share their unpublished data with others in a collaborative environment to push research toward viable treatments and cure forward at a quicker pace.
The biennial ASF Family Conference provides an opportunity for parents and families with an individual with Angelman syndrome to come together to hear and learn about the latest research findings, development in treatments, therapies and management of Angelman syndrome. It also offers time to share and networking opportunities for families who are newly diagnosed to veteran care providers.
Investment in Research
Just as the Angelman Syndrome Foundation is there to support those living with Angelman syndrome, it also envisions a future in which individuals with Angelman syndrome and their families will no longer be affected by the myriad of medical, behavioral, emotional, financial and practical issues that come with Angelman syndrome.
The ASF prides itself on funding the highest-quality research studies from the best AS research institutions, studies that have long-term results to improve the quality of life for people with AS, leading us closer to treatments and a cure.
Since 1996, 90 research grants have been awarded by the Angelman Syndrome Foundation (as of this printing), totaling over $11 MM dedicated to research toward therapeutics and a cure. These high-quality research results have leveraged over $25MM additional expanded studies with the NIH, the DOD, the Simon’s Foundation and other funding sources. Over 100 research studies with researchers spanning the US and 10 countries across the globe have been funded. In short, the ASF does not limit its funding to a small group of researchers but seeks out the brightest and best to cure Angelman syndrome.
Angelman Today
Angelman Today: A Global Perspective on Angelman Syndrome
Lizzie Sordia, Editor in Chief and Publisher of Angelman Today
Angelman Today is an online resource featuring information, research, and inspiration for all things related to Angelman syndrome. It is the first and only publication of its kind. Created for families by families. Our articles feature information that we hope will revolutionize the current care and standard of practice for the treatment and education of those affected by AS.
Angelman Today offers every Angelman syndrome organization across the globe the opportunity to submit articles so that everyone can benefit from the brilliant minds involved in the care, research and treatment of our loved ones with AS. We embarked on this project to put the best and brightest from around the world at your fingertips.
If you already haven’t, go to the amazing Angelman Today website to register for a FREE subscription to the newsletter.
Website: | Facebook | Twitter | Instagram
Animals
Our family now has a Goldendoodle for our daughter Maddy, age 12. We will be training him for a service dog. He is very smart, aware, and treats her very differently than the rest of the family. This is the perfect temperament for a service dog. He only licks and kisses her and does not attempt to jump on her or play rough with her. She has learned how to be gentle and kind from the dog.
Myriah, angel Madeline, age 12, Mutation
My son Brantley is 2 and deletion+ and loves animals! We have a house dog “Molly” that adores him! I find that he is always so interested in animals. Also equine therapy is awesome for children with AS!
Sarah, j.sorrels09@blueriver.net, angel Brantley, age 2, Del+
Anxiety
Anxiety‐associated and separation distress‐associated behaviors in Angelman syndrome
- C. Wheeler K. C. Okoniewski A. Wylie M. DeRamus L. S. Hiruma D. Toth R. B. Christian
First published: 28 May 2019
Background
Anxiety is considered a ‘frequent’ feature in the clinical criteria for Angelman syndrome; however, the nature and severity of anxiety symptoms have not been well characterized in this population. Anxiety behaviors, especially in response to separation from a preferred caregiver, have been described clinically but have not yet been explored empirically.
Method
This study used a combination of standardized and clinician‐derived survey items to assess the frequency, nature and severity of behaviors associated with anxiety and separation distress in 100 individuals with Angelman syndrome. Family (e.g. income and maternal education) and individual (e.g. age, sex, genetic subtype, sleep difficulties and aggressive behaviors) variables were also gathered to assess possible predictors of higher anxiety levels. Approximately half of the sample was seen in clinic and assessed with standardized measures of development and daily functioning, allowing for an additional exploration of the association between anxiety symptoms and extent of cognitive impairment.
Results
Anxiety concerns were reported in 40% of the sample, almost 70% were reported to have a preferred caregiver and over half displayed distress when separated from that caregiver. Individuals with the deletion subtype and individuals who are younger were less likely to have anxiety behaviors. Sleep difficulties and aggressive behavior consistently significantly predicted total anxiety, the latter suggesting a need for future studies to tease apart differences between anxiety and aggression or anger in this population.
Conclusions
Anxiety concerns, especially separation distress, are common in individuals with Angelman syndrome and represent an area of unmet need for this population.
***There are several other limitations to this study, which include lack of comprehensive, diagnostic measures of anxiety; the cross‐sectional nature of the study; and the lack of information on several potentially important key variables, such as functional communication skills, co‐morbid conditions such as seizures, pain or gastrointestinal issues, medication use and behavior management techniques used by caregivers. However, anxiety‐related symptoms are a common and challenging aspect of the AS phenotype, one that deserves greater attention. This paper provides additional evidence of the frequency, severity and nature of behaviors thought to be related to anxiety in this population. Being able to identify better both the molecular and environmental contributions to these behaviors is an important goal for researchers and clinicians working to improve the quality of life of individuals with AS and their families. Future comprehensive studies are needed to better capture symptoms of anxiety in individuals with AS over time to better understand this associated feature.
As our son has gotten older, anxiety has become a huge part of his life. He is very attached to his familiar caregivers. When he wants something that he cannot have, he has behavioral outbursts because he cannot communicate his wants and needs. Buspar is the medication that has helped the most with this.
AS Family Member
Cuddle swings and similarly enclosed forts/supportive chairs (like bean bags) help our child to calm himself because it gives his body more awareness and grounding, helping him to have more control as he knows where he is at in space.
Desiree, desireemartika@yahoo.com, angel Titus, age 3, Del+
ASF Family Fund
The ASF Family Fund was created to assist families supporting individuals with Angelman syndrome. The ASF Family Fund allows families to apply for funds that would allow access to resources that are needed to improve the quality of life for an individual with Angelman syndrome.
Applications are open annually druing April 1 – 30 and October 1 – 31.
Ataxia
Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum.
Children with Angelman syndrome may hold their arms up with the wrists and elbows bent and may flap their hands repeatedly when walking or excited. Diminished muscle tone (hypotonia) of the trunk, increased muscle tone (hypertonia) of the arms and legs, and abnormally exaggerated or brisk reflex responses (hyperreflexia) may also occur. Some children with Angelman syndrome experience subtle tremors of the arms and legs. These movement disorders may be apparent early during infancy (approximately 6-12 months of age). Motor milestones (e.g., walking) are usually delayed. In mild cases, children may begin to walk at 2-3 years of age. In more severe cases, walking may be noticeably slow, stiff and jerky. Some children may not be able to walk until they are 5-10 years of age. In approximately 10 percent of cases, children with Angelman syndrome do not walk unaided.
Our son is extremely mobile but does have ataxia. Shoes with good support help, and making sure there are not things lying around that he could easily trip on.
AS Family Member
Audrey Angelman
February 2, 1936 – August 15, 1999
Biographical Information by Mrs. Pam Kempt, niece of Audrey Angelman 1999
Pam is the daughter of Jean Walsh, Audrey’s older sister
Audrey Stuart Angelman was the younger daughter of Mr. and Mrs. A.S. Taylor. Audrey was educated at Merchant Taylor’s School for Girls Crosby, Liverpool. During her time at school she was junior tennis champion and won two awards for public speaking. Audrey was awarded scholarships and attended Liverpool University where she achieved BA and B Ed degrees. Audrey was an accomplished pianist, organist and writer.She became Deputy Head of the King David School, Liverpool where she was highly respected. Audrey wrote and composed the school song and formed the school choir. Audrey later left the King David School to take a position as a lecturer at St. Katherine’s College, Liverpool. In December 1964 Audrey married Dr. Harry Angelman who was a pediatrician at Warrington Hospital. At the time, Harry was working on identifying the very early stages of a condition that would later be named for him, Angelman syndrome. After Harry’s passing, Audrey worked very hard for the Angelman Syndrome Foundation and successfully established her dream of an International Angelman syndrome Organization. Through her travels she met many children with Angelman syndrome along with their parents and relatives. Audrey kept all the letters she received and made a point of personally replying to each one.
Sadly, Audrey passed on August 15, 1999 in England after a brief illness. She faced this illness with her usual stoicism and wry sense of humor. That autumn, the Angelman Syndrome Foundation announced the creation of the “Harry and Audrey Angelman Award” in their honor. The award recognizes an individual or group who have demonstrated a strong commitment to enhancing the awareness and understanding of Angelman syndrome.
Tribute by Dr. Joe Wagstaff, April 2000
Audrey Angelman felt that children with disabilities and their parents suffer as much from isolation and lack of communication as they do from the disabilities themselves. One of her great gifts was for communication, and she put an enormous amount of time and effort into trying to end that isolation for AS families. She felt that communication between AS families provided the great emotional relief of knowing that someone else had been through the same experiences and joys and heartbreaks. She also knew that mothers, fathers, brothers and sisters, grandmothers, grandfathers, and cousins of AS individuals find solutions to problems that would never occur to therapists or physicians. Angelman Syndrome from A to Z is a perfect expression of Audrey’s desire to bring AS individuals and their families together, to share solutions to problems where they exist, and to provide support and comfort when the problem hasn’t been solved yet.
Dr. Joe Wagstaff (1955-2008)
Audrey considered Joe “like a son”. Dr. Harry and Audrey Angelman never had children of their own.
Anecdote by Alice Evans, mom of angel Whitney, age 33
In 1997 Audrey stayed with us for a few days in our San Diego home. It was the year after Harry’s passing and immediately after the 1997 ASF Seattle Conference. It was very important for those who planned the Seattle conference to make sure that Audrey felt she was still a vital part of the ASF and the Angelman community. Audrey was scheduled to host the “Ask Audrey” session, and I sensed beforehand that Audrey was worried no one would want to attend. I can’t tell you how pleased she was when the entire room began to fill!! Of course, she included Harry in every response she gave no matter how specific the question was about her.
While she was at our home, I taught Audrey how to use email. I asked members of the Angelman Listserv to email Audrey on that particular day. Imagine her surprise when dozens and dozens of emails began popping up! She was so thrilled and we printed each one. At breakfast the next morning she had the huge stack of printed emails in her hand. Audrey confessed that she had been up all night reading them over and over again! Audrey and Harry never had children of their own, but they most certainly considered all of the angels and their families to be “theirs”.
Dr. Harry Angelman
Dr. Harry Angelman, an English physician at Warrington General Hospital, published a research paper that first described children with characteristics of Angelman syndrome. At that time, he referred to the disorder as “Happy Puppet Syndrome.” The condition was considered to be extremely rare at that time, and many physicians doubted its existence. This discovery, in theory, was the birth of AS.
Dr. Angelman was born in Birkenhead in 1915 and qualified in Liverpool. Angelman was an enthusiast for the language and country of Italy. He had observed three children who were unrelated but showed similar symptoms (severe intellectual disablement, lack of speech, motor disorders, and happy demeanors). He was of two minds as to whether he should publish his findings but he described seeing a painting which seemed to characterize the symptoms he had observed. The painting showed a boy with a puppet and was by the renaissance artist Giovanni Francesco Caroto. Angelman travelled to talk about his discovery and his work was mentioned as important by U.S. President Bill Clinton. Angelman died due to a colon tumor.
https://en.wikipedia.org/wiki/Harry_Angelman
Autism-like Features
The following information is taken from 2009 document written by Charles A. Williams, M.D; and Sarika U. Peters, Ph.D.
Some of the associated clinical features of AS (e.g. hand-‐‑flapping, stereotypic behaviors, deficits in expressive language), overlap with certain features of autism. Generally speaking, clinicians should exercise caution when examining symptoms of autism within AS, because some AS patients have been mistakenly identified as having autism in lieu of AS [41], and some patients who exhibit features of autism when they are younger, may no longer exhibit these features as their cognition and their language skills improve.
There are, however, some studies that specifically examine the frequency and magnitude of autistic traits in individuals with AS. While some researchers demonstrate a lack of autistic traits or very low incidence of autism in individuals with AS [42, 43], several other studies have demonstrated that a percentage of individuals with AS do also meet criteria for autism [34, 35, 44]. Individuals with AS and co-‐‑morbid autism are more likely to show decreased eye gaze, fewer social overtures, use fewer nonverbal gestures, use another person’s body as a “tool” to communicate “for” them, have decreased shared enjoyment in interactions, and fewer socially directed vocalizations [34, 44].
Recent studies demonstrate that it is primarily deletion positive individuals with AS that exhibit greater symptom severity associated with autism, and within the deletion positive group, primarily children with larger, Class 1 deletions [45] [46]. Most recent findings indicate that these differences in symptoms of autism between the deletion subgroups are not related to differences in cognition (i.e. children with greater symptom severity were not necessarily lower functioning).
To summarize, studies seem to indicate that severity of autism symptoms in AS only affects a small proportion of AS patients, is associated with deletion size, and with a more aloof/withdrawn behavioral phenotype. There are four genes (NIPA 1, NIPA 2, CYFIP1, & GCP5) missing in Class I and present in Class II deletions (refer to diagram in Genetic Mechanisms that Cause AS section), one or more of which may have a role in the development of socialization skills and symptoms related to autism. For the small percentage of patients with AS who do exhibit more features of co-‐‑morbid autism, specific therapies such as applied behavioral analysis are quite helpful.
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class
Departments of Pediatrics Psychiatry, Vanderbilt University, Nashville, TN, USA.
https://www.ncbi.nlm.nih.gov/pubmed/?term=21831244
Conclusions: Despite a lack of differences in cognition or adaptive behavior, individuals with Class I deletions have greater severity in ASD features and sensory aversions that remain over time. There are four genes (NIPA 1, NIPA 2, CYFIP1, and GCP5) missing in Class I and present in Class Il deletions, one or more of which may have a role in modifying the severity of social affect impairment, and level of restricted/repetitive behaviors in AS. Our results also suggest the utility of a dimensional, longitudinal approach to the assessment of ASD features in populations of individuals who are low functioning.
Zylka Lab awarded $6.1 million from NIH to develop CRISPR/Cas9 gene therapy for Angelman syndrome, study UBE3A autism gene with Philpot Lab
September 17, 2019
See information about this award.
Angelman Syndrome’s Silent Gene Points Way Forward for Autism Therapies
By Stormy Chamberlain / 21 OCTOBER 2019
Stormy Chamberlain
Associate professor of genetics and genome sciences, University of Connecticut
Read this article in Spectrum News.
ANECDOTE:
More than twenty-five years ago I had a student in my classroom with autism. Even though he was quite different than my angel, I did notice some similar features, such as: arm flapping; hyperactivity; difficulty altering routines; communication challenges; sleeping problems (as reported by his parents); attention issues; and more. I was told repeatedly that there was no connection between Angelman syndrome and autism. However, I was convinced that there just might be a link. (This was a time when immunizations, along with other theories, were suspected as being a cause for autism.) My daughter is Deletion Positive and now it is thought that children who have a large deletion like her, labeled Class 1, do have some features of autism. My take away from this is that we parents do have some unique insights when it comes to our children. Keep speaking up! You might be on to something!
Alice, sandiegoasfwalk@gmail.com, San Diego, CA, angel Whitney, age 38, Del+ Class 1
