Angelman Syndrome What is Angelman Syndrome AS a

Angelman Syndrome

What is Angelman Syndrome (AS)? �a rare diagnosed genetic disorder that mainly affects the nervous system �named after a British pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965 � was once known as “happy puppet syndrome” but has since been replaced with the more respectful term of Angelman Syndrome (AS)

How common is AS? � 1 out of every 15, 000 - 20, 000 people will be born with AS �Caused by a genetic mutation of the gene UBE 3 A located on chromosome 15 �Most babies do not show any signs or symptoms when they are born.

What are the symptoms? Symptoms are apparent by six to twelve months of age. In infants 0 -24 months: �lack of cooing or babbling �inability to support one’s head, pull oneself up to stand �delayed motor skills In young children: • lack of speech (varies from no speech to a few words) • delayed ability to walk or unable to walk • unstable gait or balance issues

Other characteristics: �severe developmental delays �severe intellectual delays �sleep disturbance �seizures (or epilepsy) �jerky movements (hand-flapping) �frequent laughter or smiling �usually a happy demeanor �risk of early death

What does AS look like? This video explains the similarities and differences of people with AS. AS affects people of all nations, races, genders and religion equally. https: //www. youtube. com/watch? v=U 5 J 0 kv. FSTt. A

How is AS diagnosed? �Since the signs and symptoms are so similar to other disorders, AS is often undiagnosed or misdiagnosed as cerebral palsy, autism, or other childhood disorders. �A blood test can detect up to 80 -85% of individuals with AS by identifying whether the UBE 3 A gene is functioning properly. �For the remaining 15 -20% of individuals, an experienced clinician who is familiar with AS can provide a clinical diagnosis.

Depending on the cause of AS, families may have from less than 1% up to a 50% chance of having another child with AS. Laboratory testing for AS is available at most major medical genetic clinics. Testing often includes a combination of chromosomal and DNA techniques.

Why is early intervention so important? Early intervention is important to ensure that children with AS reach their full potential. Late or misdiagnosis may cause individuals to lose opportunities for early intervention programs, resources, personalized support and life-saving treatments. Special education services that may be beneficial to children with AS include special social support and other medical, social, and/or vocational services. Most children with AS benefit from physical, speech and occupational therapy. Behavioral modification therapy may be used to discourage unwanted behaviours.

Can AS be treated? There is no cure of AS. Therapies treat the symptoms and support individuals with AS so they may lead the most fulfilling life to the best of their abilities based on their specific needs. Each treatment plan is specifically tailored to each person based on his/her strengths and challenges. Recent studies involving mice have shown great progress in the hope of finding a cure one day for AS.

What are the types of treatment available? �Anti-seizure medications (anticonvulsants) are helpful to those experiencing seizures and in most cases can be adequately controlled with a single medication. � Sleep disorders are common and may require behavioural therapy and adherence to strict bedtime routines and/or sedating medications. �Ankle braces/supports and physical therapy can help children to walk by building up low muscle tone in the body.

What are the Special Education Placement Options? During the IPRC process, a recommendation for placement will be made. In a regular class with an IEP with modified accommodations, supports may include: �In-classroom assistance; �In-school resource withdrawal; � Support from the Itinerant ASD Resource Team; Speech and Language Services; the Developmental Education Team; and a Special Education learning coordinator; �On-going and/or consultative services from community agencies.

In a self-contained special education classroom, supports include: �modifying the program and providing methods of instruction that are compatible with the student’s learning style thereby enabling the student to experience academic, social and communication growth. �providing integration opportunities for students based on IEP goals within the wider school community.

Since AS is a condition involving multiple disabilities, a student with AS may be transported to a school or facility other than their home school, if the home school does not have the appropriate modifications and/or specialized equipment and facilities to meet the student’s needs. Thames Valley Special Education Plan 2015 -2016, page 62 http: //www. tvdsb. ca/files/288516/standard_9_2015. pdf

Parental Concerns about Inclusion Even though many parents are in favour of inclusive education, here are some of the concerns they have: � the child is behaviorally disruptive and could hurt others; � attitudes of other students such as possible verbal and physical abuse by peers, social isolation; � staff and program quality and loss or reduction of services; � transportation; � commitment from the school board; � potential for failure; � that the severity of the child’s disability precluded benefits from inclusion; � inclusion would overburden general education teachers or students.

What additional support can we provide in the classroom? Since treatment options are based on specific needs, every child will have a tailored IEP to meet his or her needs. The following pages will provide instructional accommodations based on some of the more common needs of children with AS that teachers can use in the classroom.

Gross Motor Skills Instructional strategies: • Implement school based recommendations provided by Occupational and Physical Therapists. • Use assistive devices as prescribed (orthopedic chair, desk, etc). • Develop and teach alternate programming expectations for the student. • Reward efforts. • Provide frequent breaks to avoid fatigue. • Specifically teach physical education skills that are at a level so as to be attainable by the student. • Teach skills to address needs. • Focus on successes and improvements. • Teach and encourage self-advocacy for the student to articulate needs to avoid injuries.

Communication Skills Instructional strategies: �Use and/or teach gestures, sign language, manual signs, finger spelling, eye gaze, picture communication symbols, and voice output communication aids in order to encourage effective communication.

Intellectual Delays Instructional strategies: �Use instructional methods related to the student’s strengths and interests. �Use concrete pictures, models and hands-on materials to increase understanding. �Use differentiated instruction methods. �Use repetition. �Use realistic examples that the student has experienced. �Re-teach/regularly review previously learned vocabulary and concepts.

Intellectual Delays �Frequently check for understanding. �Use computers and assistive technology. �Establish and use a home communication system. �Chunk new information into steps. �Reduce the quantity of work. �Allow for additional learning time for new information.

Personal Care • Provide extra time for personal care needs to be met. • Develop a schedule for staff support for the student. • Plan tasks that the student can do. • Allow extra time for task completion. • Privately talk to the student about self-care.

Environmental Accommodations �Use preferential seating, so that the student is close to supplies and the teacher. �Ensure safety by providing adequate space for the student to walk to his/her desk and around the classroom. �Ensure adequate space in the coat/locker area. �Provide elevator access if available/necessary. �Develop and practice a plan for emergency evacuations to ensure safety. �Reduce visual and auditory distractions.

Assessment Accommodations � Use assistive devices. � Provide breaks. � Provide additional time. � Offer a quiet work location. � Allow for oral/scribed tests.

Assessment Accommodations • Ensure understanding before student starts working. • Provide choice of assignments, so that the student can choose an area of strength. • Provide written instructions. • Chunk assignments into parts and provide feedback as each part is completed.

What parents want educators to know My child… �can learn more than the school realizes; �has gifts and talents to share; �is smart; �is doing his/her best; �does not have bad behaviors; �is just trying to communicate; �still has great potential to learn even though he/she does not speak; �may not talk but has a lot to say; �can teach other kids tolerance, joy and perseverance.

Community Resources The Canadian Angelman Syndrome Society (CASS), founded in 1993, is dedicated to educating parents and professionals by providing information and providing support for families and caregivers of children with Angelman Syndrome. www. angelmancanada. org The South West Community Care Access Centre gets people the care they need to stay well, heal at home and stay safely in their homes longer. CCAC by works in partnership with patients, families, providers and community organizations. http: //healthcareathome. ca/southwest/en

Thames Valley Children’s Centre (TVCC) works to support children and their families to achieve the highest possible quality of life. Services include: physical disabilities, communication disorders, developmental delays and autism spectrum disorders. http: //tvcc. on. ca/

Support for Family and Friends Life isn’t easy, especially when you have a child with a disability. Here a few videos that describe the lives of children with AS. For families, knowing that there are others out there and that they are not alone is very important. Our Daughter's RARE DIAGNOSIS – Angelman Syndrome https: //www. youtube. com/watch? v=F 23 Xq. Z 3 e. Mh 8 Elijah’s Journey with Angleman Syndrome written by his dad https: //elijahangel. wordpress. com/

Online Support There a number of Facebook groups relating to AS where people can contact one another and share their stories. There also many personal stories shared on You Tube that describe the trials and tribulations of people living with AS. Using the following link, you can connect with people and families from all over the world who are affected by AS. Ø 108 people and/or families on the map so far https: //www. diseasemaps. org/en/angelman-syndrome/

AS Awareness Here a few videos to help educate others on AS and the importance of one day finding a cure. 3 -year-old boy battles Angelman Syndrome https: //www. youtube. com/watch? v=m 2 v. EZHZgnlo Jacob’s Story https: //www. youtube. com/watch? v=Jxs. I 8 M 7 XM 8 I Close to a cure? https: //www. youtube. com/watch? v=WWlrafptb. TM

International Angelman Day (IAD) is observed annually on February 15 th to raise awareness worldwide for Angelman Syndrome (AS).

Kids just want to be kids! Kids with Angelman Syndrome just want to be kids. The following video demonstrates the courage and perseverance it takes to learn the skills that many people take for granted on a daily basis. We need to focus on what kids with Angelman Syndrome CAN do and WILL do given the right support, encouragement and unconditional love. https: //www. youtube. com/watch? v=niz. Mh. OEbd 5 M

Additional Resources �www. angelmancanada. org �www. angleman. org �http: //rarediseases. org/rare-diseases/angelman- syndrome/ �http: //cureangelman. org/ �http: //www. teachspeced. ca/angelman-syndrome �http: //www. eurordis. org/content/living-angelmansyndrome • Thames Valley Special Education Plan 2015 -2016 http: //files. eric. ed. gov/fulltext/EJ 937177. pdf