Angelman Syndrome

1. Angelman Syndrome By: Zoe Robinson

2. Resources 1) http://www.mayoclinic.org/diseases-conditions/angelman-syndrome/basics/definition/con-20033404 2) http://www.medicinenet.com/angelman_syndrome/article.htm 3) http://www.angelmancanada.org/ 4) https://ghr.nlm.nih.gov/condition/angelman-syndrome#statistics 5) https://www.angelman.org/ • Article: Facts About Angelman Syndrome , 7th edition, Jan 1 2009 ]

3. Video https://www.youtube.com/watch?v=ETMW0lExCgs This video provides an overview of what Angelman syndrome is. I wanted to offer this an alternative to those who do not learn by reading alone 

4. Overview • Angelmansyndrome is a genetic disorder. It was discovered initially by Dr Harry Angleman.

5. As more cases became prevalent it was researched further by other sceintists. • It causes developmental disabilities and neurological problems. • It can be tricky to diagnose and often confused with PraderWilli syndrome or other childhood disorders. • It is only upon studying the genetics that the difference was discovered which is important for those with Angelman syndrome.

6. A physician at the Oregon Health Science center named Ellen Magenis make an important discovery in 1987. She was studying children who were expected to have PraderWilli syndrome. She had identified the microdeletions of chromosome 15 but these children were having seizures and severe developmental delays which was not typical in PraderWilli syndrome.

7. What was discovered was that “ these children had microdeletions on the maternally derived number15 chromosome whereas in the Prader-­‐‑Willi syndrome the deletion was always observed on the paternally derived one. This was an important discovery and ultimately paved the way for the delineation of several mechanisms that caused AS, all by disruption of a gene located on chromosome 15. It was learned that the syndrome can be caused by two copies of the paternal chromosome 15 (1991) and that a regulatory region (the Imprinting Center) can be also be disrupted to the syndrome (1993). In 1997, 10 years after the chromosome deletion was identified, the AS gene, UBE3A, was isolated. This discovery quickly led to the development of animal models and to active neuroscience research aimed at discovering how abnormalities of UBE3A cause impairment in neural development.” (pg 3,Facts About Angelman Syndrome, angelman syndrome foundation)

8. According to the research I have done Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.

9. Signs and symptoms • As with many other disorders not all these will present at the same time. Infancy: • in the first months of life problems feeding. • 6 to 12 months developmental delays.

10. Childhood: • ages 2 to 3 year seizures begin. • pronounced speech impairment (little to no use of words). • hyperactivity • short attention span • impulsive • small head • sleep disorders • balance and movement disorders

11. stiff or jerky movements • tongue thrusting • happy • excitable • anxiety related to the unknown or change in routine • frequent smiling, and laughter • hand flapping

12. Adulthood: • become less excitable • improvement in sleeping problems • intellectual disabilities • severe speech delays • seizures • fair skin • light coloured hair • scoliosis

13. *Important take away* • Each child with Angelman syndrome is an individual and their needs will vary. The parent requires support and communication from the school. The parents are the experts and know their child well!

14. Classroom strategies Individuals with Angelman syndrome will require: • Speech therapy- it can be common that no speech is developed. • Occupational therapy- to help with movement and fine motor skills • Social stories- to help with life skills • strategies to deal with impulsive behavior and anxiety.

15. Students can be in a regular classroom as long as they continue to receive speech, occupational therapy and social skill training. • It is VERY important to not lower your academic expectations. These students will require an IEP in order to help them but they CAN succeed in a regular classroom.

16. As the classroom teacher some strategies could be : 1) Use flash cards and/or picture symbols to communicate wants, needs and transitions 2) Extra travel and set-up time 3) Use social stories to teach life skills 4) REMEMBER how anxiety plays a big part. Time table and warnings before transitions would be very important 5) Set up room to allow for safe movement .

17. Role of community agencies in supporting the family and school professionals in educating the student with Angelmansyndrome The role of community agencies would be to provide the family and school professionals with hands on strategies and teaching ideas. These strategies would ensure that the individual is being provided with the best academic and social program. They would also provide links to other professionals working with Angelman syndrome. These professionals could include doctors.

18. The most common theme again in my research was that there is not a lot of professional learning for both family and school professions for individuals with Angelman syndrome. In the many articles I read there was a call or wish for more. • The Angelman Syndrome Foundation has a list of community resources. https://www.angelman.org/resources-education/support-resources

19. Work and adulthood preparation • Yes an individual with Angelman syndrome can lead a productive life! • Through primary and secondary education individuals with Angelman syndrome should be provided with life skills training and some ideas of realistic options for jobs. For those specific jobs work habits and behavior will need to be taught and practice in order to help them be successful.

20. How can teachers ensure that a student with this syndrome reaches their full potential?   

21. Teachers can do this by : • Providing a modified but appropriately challenging academic and social program for the student. • Understanding each child with AS will not be the exact same. • Staying in communication with the parents and in school team. • Researching and finding out more information about Angelman syndrome.

22. Lets start a discussion  • Besides the ideas listed above what other modifications or accommodations would you need to help these students, who have little to no verbal communication, succeed in school? Think about the literacy program! **Keep in mind sign language would be great in theory but what about hand flapping?**