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See the complete list of topics.

IEP Imprinting | Imprinting Inheritance | Incidence of AS  | Inclusion Resources | International Email Contacts & Websites | iPads



Contact Michelle Harvey of the ASF Family Resource Team for questions and help on IEPs. 

About Michelle Harvey: As an ASF Resource Team member, Michelle’s areas of focus are IEPs and ABA. If you have questions about IEP goals, IEP meetings with teachers, or your child’s inclusion at school, Michelle is your go-to resource. Her MEd in Special Education (Severe/Comprehensive Disabilities) and ABA form a great foundation for her work with the ASF. She is also interested in the intersection of behavior/ABA principles and education and applying that to disabilities such as Angelman syndrome. Michelle was introduced to Angelman syndrome through her youngest brother (Matt, Del+), who recently graduated from high school and is now in his district’s community-based program. She adores her brother and is very proud of him, crediting much of his success to her mom and dad. She enthusiastically uses her personal experiences to help other AS families. Michelle currently lives in San Diego.

See the Resources & Education section and select Individual Education Plan (IEP) from the Categry dropdown menu, for a list of resources.

Angelman Family Contributions

Take someone with you to the IEP meeting. One of you can write down main topics and comments and even jot down questions that come to mind while things are being discussed. The information can be overwhelming. Know your rights and go in knowing what you want, or with questions for your child’s services.
Terry, angel Byron, age 35

Keep the goals simple and work on one at a time. Once one goal is gaining progress another can be added.
Donna, angel Douglas Joseph

Public school districts are not always funded adequately to provide the support services that each child needs; therefore, you must be an advocate for your child. Contact your state advocacy agency and ask them to come with you to IEP meetings. Take family and other parents of children with disabilities in your area to meetings for support. Never go alone to an IEP meeting because it can be a very emotional process and can often become overwhelming. When emotions are high you miss information that someone else could catch. The squeaky wheel gets the grease! Don’t sign an IEP until the best interest of your child is met. When school districts say (and they will) that your child doesn’t qualify for therapies, services, or special considerations; you need to remember that sometimes your child really does qualify. The school district just doesn’t always have the means to make it happen.

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Imprinting Defect

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

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Imprinting Inheritance

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

Risk of inheritance of Angelman syndrome

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Incidence of Angelman Syndrome

The answer to this question is not precisely known but we do have some estimates. A Swedish study of school age children showed an AS prevalence of about 1/12,000 (Steffenburg, S et al., 1996) and the Danish study of AS children in medical clinics, over an 8 year period when there was 45,000 births, showed a minimum prevalence of 1/10,000 (Petersen, MB et al., 1995). The most recent data comes from an excellent study from Denmark that used multiple, relatively complete ascertainment methods to determine a prevalence of 1/24,000 (Mertz, LG et al., 2013).

Several reports have tried to address the prevalence of AS among groups of individuals with established developmental delay. The results showed rates of 0% (Vercesi, AM et al., 1999), 1999), 1.3% (Aquino, NH et al., 2002), 1.4% (Jacobsen, J et al., 1998), and 4.8% (Buckley, RH et al., 1998). The Buckley paper extrapolated their data in order to compare it to the population of the state of Washington (using 1997 Census Bureau figures) and obtained an estimate of 1/20,000, a number similar to that often quoted, but not referenced in terms of methodology, in a 1992 review paper (Clayton-Smith, J and Pembrey, ME 1992).

There appears to be no reported prevalence studies that have screened newborns to detect rates of AS. Population wide prevalence figures would need to take into consideration that longevity in AS is probably reduced (severe mental delay and seizure presence would be risk factors) but no significant population-based data are available on life span shortening. Likewise, it is not known what percent of individuals with AS are undiagnosed, although this is expected it to be significant. Accordingly, to estimate the number of people with AS living in the society, it would be inaccurate to divide any estimated AS prevalence figure into a total population number.

In summary, AS is seen throughout the world, diagnosed in individuals of all races. Although the true incidence remains unknown due to challenges of early identification, misdiagnosis, etc., it appears that the prevalence of AS among children and young adults is somewhere between 1/12,000 and 1/24,000.

Charles Williams, MD
January 30, 2003; Reviewed 6-25-05 and Reviewed 11-4-08; Updated 10-8-2015

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Inclusion Resources

Also see C – Community

University of Illinois at Chicago, College of Applied Health Sciences

The Institute on Disability and Human Development
The IDHD is designed to give you updated information on public service, research, and academic programs and centers focused on removing barriers for people with disabilities and promoting their full participation in community living.

Parents‘ Perspectives on Inclusion and Schooling of Students with Angelman syndrome: Suggestions for Educators
by Yona Leyser Ph. D.
Rea Kirk Ed. D Northern Illinois University, University of Wisconsin-Platteville 2011

Working with a Child who has Angelman syndrome / The Role of an Early Childhood Special Education Teacher in Kindergarten
by Katherine M. Dobbs – St. Cloud State University, jkjrdobbs2@gmail.com  4-2017

Angelman Family Contributions

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

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

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

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

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International Resources and Contacts

See International AS Resources page for a list of resources and organizations outside of the U.S.

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Angelman Family Contributions

Make sure your entire family and social circle know how important iPads are to your Angel and ask to buy their old devices when they upgrade!
AS Family Member

Always, always, always have water proof iPad case on your iPad!!
AS Family Member

Have multiple iPads! One for communication, one for entertainment, and a backup one when they break either one!
AS Family Member

A great tool for communication apps and entertainment. The very thick foamy protectors are great! This is a great place to have personal photos and videos, and also to access kid-friendly videos and shows. Facetime with relatives is fun, too!
Andrea, mcneilak98@gmail.com, angel Tyler, age 18, Del+ Class 1

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